Physical Examination of the Newborn

Introduction

Before examining the infant, a thorough chart review should be performed.

Maternal history

• Prior pregnancies, deliveries, and associated complications
• History of siblings with congenital Congenital Chorioretinitis defects or genetic disorders
• Complications during pregnancy Pregnancy The status during which female mammals carry their developing young (embryos or fetuses) in utero before birth, beginning from fertilization to birth. Pregnancy: Diagnosis, Physiology, and Care:
  • Gestational diabetes Diabetes Diabetes mellitus (DM) is a metabolic disease characterized by hyperglycemia and dysfunction of the regulation of glucose metabolism by insulin. Type 1 DM is diagnosed mostly in children and young adults as the result of autoimmune destruction of β cells in the pancreas and the resulting lack of insulin. Type 2 DM has a significant association with obesity and is characterized by insulin resistance. Diabetes Mellitus 
  • Hypothyroidism Hypothyroidism Hypothyroidism is a condition characterized by a deficiency of thyroid hormones. Iodine deficiency is the most common cause worldwide, but Hashimoto’s disease (autoimmune thyroiditis) is the leading cause in non-iodine-deficient regions. Hypothyroidism
  • Eclampsia Eclampsia Onset of hyperreflexia; seizures; or coma in a previously diagnosed pre-eclamptic patient (pre-eclampsia). Hypertensive Pregnancy Disorders
• Social behaviors (tobacco use, illicit drug use, alcohol use)
• Preventative care during pregnancy Pregnancy The status during which female mammals carry their developing young (embryos or fetuses) in utero before birth, beginning from fertilization to birth. Pregnancy: Diagnosis, Physiology, and Care:
  • Adherence to routine prenatal care Prenatal care Prenatal care is a systematic and periodic assessment of pregnant women during gestation to assure the best health outcome for the mother and her fetus. Prenatal care prevents and identifies maternal and fetal problems that adversely affect the pregnancy outcome. Prenatal Care
  • Tdap ( tetanus Tetanus Tetanus is a bacterial infection caused by Clostridium tetani, a gram-positive obligate anaerobic bacterium commonly found in soil that enters the body through a contaminated wound. C. tetani produces a neurotoxin that blocks the release of inhibitory neurotransmitters and causes prolonged tonic muscle contractions. Tetanus, diphtheria Diphtheria Diphtheria is an infectious disease caused by Corynebacterium diphtheriae that most often results in respiratory disease with membranous inflammation of the pharynx, sore throat, fever, swollen glands, and weakness. The hallmark sign is a sheet of thick, gray material covering the back of the throat. Diphtheria, and pertussis Pertussis Pertussis, or whooping cough, is a potentially life-threatening highly contagious bacterial infection of the respiratory tract caused by Bordetella pertussis. The disease has 3 clinical stages, the second and third of which are characterized by an intense paroxysmal cough, an inspiratory whoop, and post-tussive vomiting. Pertussis (Whooping Cough)) vaccine Vaccine Suspensions of killed or attenuated microorganisms (bacteria, viruses, fungi, protozoa), antigenic proteins, synthetic constructs, or other bio-molecular derivatives, administered for the prevention, amelioration, or treatment of infectious and other diseases. Vaccination during pregnancy Pregnancy The status during which female mammals carry their developing young (embryos or fetuses) in utero before birth, beginning from fertilization to birth. Pregnancy: Diagnosis, Physiology, and Care
  • Rhogam administration, if applicable
• Results of screening Screening Preoperative Care tests, including:
  • Genetic screenings
  • Glucose Glucose A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. Lactose Intolerance tolerance Tolerance Pharmacokinetics and Pharmacodynamics test (gestational diabetes screening Diabetes Screening Adult Health Maintenance)
  • HIV HIV Anti-HIV Drugs and other sexually transmitted infection Sexually Transmitted Infection Sexually transmitted infections (STIs) are infections that spread either by vaginal intercourse, anal sex, or oral sex. Symptoms and signs may include vaginal discharge, penile discharge, dysuria, skin lesions (e.g., warts, ulcers) on or around the genitals, and pelvic pain. Some infections can lead to infertility and chronic debilitating disease. Sexually Transmitted Infections (STIs) ( STI STI Sexually transmitted infections (STIs) are infections that spread either by vaginal intercourse, anal sex, or oral sex. Symptoms and signs may include vaginal discharge, penile discharge, dysuria, skin lesions (e.g., warts, ulcers) on or around the genitals, and pelvic pain. Some infections can lead to infertility and chronic debilitating disease. Sexually Transmitted Infections (STIs)) screening Screening Preoperative Care
  • Urine drug screening Screening Preoperative Care

Infant’s birth history

• Gestational age Gestational age The age of the conceptus, beginning from the time of fertilization. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last menstruation which is about 2 weeks before ovulation and fertilization. Pregnancy: Diagnosis, Physiology, and Care
• Labor and delivery route and management:
  • Duration of labor
  • Duration of rupture of membranes
  • Route of delivery 
• Associated delivery complications:
  • Prolonged rupture of membranes or preterm labor Preterm labor Preterm labor refers to regular uterine contractions leading to cervical change prior to 37 weeks of gestation; preterm birth refers to birth prior to 37 weeks of gestation. Preterm birth may be spontaneous due to preterm labor, preterm prelabor rupture of membranes (PPROM), or cervical insufficiency. Preterm Labor and Birth
  • Group B streptococcal ( GBS GBS An acute inflammatory autoimmune neuritis caused by t cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. Polyneuropathy) status
  • Shoulder dystocia Shoulder Dystocia Obstetric complication during obstetric delivery in which exit of the fetus is delayed due to physical obstruction involving fetal shoulder(s). Complications during Childbirth or other malpresentations
• APGAR scores (see table below)
  • Scoring system to evaluate newborns
  • Performed at 1 and 5 minutes of life
  • Low 5-minute APGAR scores correlate with increased cerebral palsy Palsy paralysis of an area of the body, thus incapable of voluntary movement Cranial Nerve Palsies rates.

Vital Signs

The normal range for neonatal vital signs is unique.

• Temperature: 36.5℃–37.6℃ (97.7℉–99.5℉) 
• Heart rate Heart rate The number of times the heart ventricles contract per unit of time, usually per minute. Cardiac Physiology: 120–160/min
• Respiratory rate Respiratory rate The number of times an organism breathes with the lungs (respiration) per unit time, usually per minute. Pulmonary Examination: 36–60/min
• Pulse oximetry: > 90% 
• Blood pressure:
  • Must be measured with a properly fitting, neonatal-sized blood pressure cuff
  • Usually only measured if renal or cardiovascular conditions are suspected

During the perinatal period, growth parameters Growth Parameters Child and Adolescent Care should be plotted daily on a growth chart.

• Length 
• Weight
  • Below the 10th percentile is small for gestational age Gestational age The age of the conceptus, beginning from the time of fertilization. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last menstruation which is about 2 weeks before ovulation and fertilization. Pregnancy: Diagnosis, Physiology, and Care (SGA).
  • Above the 90th percentile is large for gestational age Gestational age The age of the conceptus, beginning from the time of fertilization. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last menstruation which is about 2 weeks before ovulation and fertilization. Pregnancy: Diagnosis, Physiology, and Care (LGA).
• Head circumference
  • Below the 2nd percentile is considered microcephaly Microcephaly A congenital abnormality in which the cerebrum is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (desk reference for neuroscience, 2nd ed. ). Fetal Alcohol Spectrum Disorder.
  • Above the 98th percentile is considered macrocephaly Macrocephaly Cowden Syndrome.

General Exam

Physical exam findings

Physical exam findings can help confirm the gestational date (Ballard score):

The infant’s reaction to the examination is useful in assessing:

• Alertness
• Reactivity
• Tone
• Vigor

Respiratory effort

Tachypnea Tachypnea Increased respiratory rate. Pulmonary Examination may indicate:

• Pulmonary dysfunction
  • Transient tachypnea Transient Tachypnea Abnormal increase in respiratory rate in the newborn. It is self-limiting and attributed to the delayed fetal lung fluid clearance often in caesarean section delivery. Pediatric Chest Abnormalities of the newborn
  • Meconium Meconium The thick green-to-black mucilaginous material found in the intestines of a full-term fetus. It consists of secretions of the intestinal glands; bile pigments; fatty acids; amniotic fluid; and intrauterine debris. It constitutes the first stools passed by a newborn. Prenatal and Postnatal Physiology of the Neonate aspiration
  • Pulmonary hypertension Pulmonary Hypertension Pulmonary hypertension (PH) or pulmonary arterial hypertension (PAH) is characterized by elevated pulmonary arterial pressure, which can lead to chronic progressive right heart failure. Pulmonary hypertension is grouped into 5 categories based on etiology, which include primary PAH, and PH due to cardiac disease, lung or hypoxic disease, chronic thromboembolic disease, and multifactorial or unclear etiologies. Pulmonary Hypertension
  • Pulmonary hypoplasia Hypoplasia Hypoplastic Left Heart Syndrome (HLHS)
• Congenital Congenital Chorioretinitis cardiac abnormalities (the 5 Ts)
  • Truncus arteriosus Truncus arteriosus Truncus arteriosus (TA) is a congenital heart defect characterized by the persistence of a common cardiac arterial trunk tract that fails to divide into the pulmonary artery and aorta during embryonic development. Truncus arteriosus is a rare congenital malformation with a high mortality rate within the 1st 5 weeks of life if not managed promptly. Truncus Arteriosus
  • Transposition of the great vessels Transposition of the Great Vessels Transposition of the great vessels (TGV) is a cyanotic congenital heart disease characterized by “switching” of the great arteries. There are 2 presentations: the dextro (D)- and levo (L)-looped forms. The L-looped form is rare and congenitally corrected, as the ventricles are also switched. Transposition of the Great Arteries (TGV)
  • Tricuspid valve Tricuspid valve The valve consisting of three cusps situated between the right atrium and right ventricle of the heart. Heart: Anatomy atresia Atresia Hypoplastic Left Heart Syndrome (HLHS)
  • Tetralogy of Fallot Tetralogy of Fallot Tetralogy of Fallot is the most common cyanotic congenital heart disease. The disease is the confluence of 4 pathologic cardiac features: overriding aorta, ventricular septal defect, right ventricular outflow obstruction, and right ventricular hypertrophy. Tetralogy of Fallot
  • Total anomalous pulmonary venous return

Skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Skin: Structure and Functions exam

• Coloration indicates general infant health:
  • Pink with slight blue discoloration to hands and feet (acrocyanosis) is normal.
  • Cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination of the face or lips Lips The lips are the soft and movable most external parts of the oral cavity. The blood supply of the lips originates from the external carotid artery, and the innervation is through cranial nerves. Lips and Tongue: Anatomy may represent poor oxygenation.
  • Pallor may indicate anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types.
  • Red, plethoric face may represent polycythemia Polycythemia An increase in the total red cell mass of the blood. Renal Cell Carcinoma.
  • Jaundice Jaundice Jaundice is the abnormal yellowing of the skin and/or sclera caused by the accumulation of bilirubin. Hyperbilirubinemia is caused by either an increase in bilirubin production or a decrease in the hepatic uptake, conjugation, or excretion of bilirubin. Jaundice is indicative of elevated bilirubin Bilirubin A bile pigment that is a degradation product of heme. Heme Metabolism.
• Careful examination to note birthmarks and other skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Skin: Structure and Functions findings suggestive of genetic disorders
  • Benign Benign Fibroadenoma birthmarks:
    • Nevus Nevus Nevi (singular nevus), also known as “moles,” are benign neoplasms of the skin. Nevus is a non-specific medical term because it encompasses both congenital and acquired lesions, hyper- and hypopigmented lesions, and raised or flat lesions. Nevus/Nevi simplex (“stork bite” or “angel’s kiss”): common salmon-colored patch Patch Nonpalpable lesion > 1 cm in diameter Generalized and Localized Rashes, often on the forehead Forehead The part of the face above the eyes. Melasma, eyelids Eyelids Each of the upper and lower folds of skin which cover the eye when closed. Blepharitis, and back of the infant’s head
    • Congenital Congenital Chorioretinitis dermal melanocytosis (formerly known as “Mongolian spot”): dark-blue pigmentation, usually on the lower back
    • Erythema Erythema Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of disease processes. Chalazion toxicum: transient 1–2 mm erythematous papules
  • Potentially concerning for genetic syndromes:
    • Cafe-au-lait spots: flat, pigmented lesions; > 6 spots concerning for neurofibromatosis
    • Ash-leaf spots: depigmented patches Patches Vitiligo of skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Skin: Structure and Functions common in tuberous sclerosis Sclerosis A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve. Wilms Tumor
    • Nevus Nevus Nevi (singular nevus), also known as “moles,” are benign neoplasms of the skin. Nevus is a non-specific medical term because it encompasses both congenital and acquired lesions, hyper- and hypopigmented lesions, and raised or flat lesions. Nevus/Nevi flammeus (“ port-wine stain Port-wine stain A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema. In the past, port wine stains have frequently been termed capillary hemangiomas, which they are not; unfortunately this confusing practice persists: hemangioma, capillary is neoplastic, a port-wine stain is non-neoplastic. Port-wine stains vary in color from fairly pale pink to deep red or purple and in size from a few millimeters to many centimeters in diameter. The face is the most frequently affected site and they are most often unilateral. Sturge-Weber Syndrome (SWS)”): dark-red, large, flat patch Patch Nonpalpable lesion > 1 cm in diameter Generalized and Localized Rashes of vascular origin; can be associated with Sturge-Weber syndrome

Head and Neck

Face and scalp

• Note the overall size and shape of head, paying attention Attention Focusing on certain aspects of current experience to the exclusion of others. It is the act of heeding or taking notice or concentrating. Psychiatric Assessment to any abnormalities associated with common genetic conditions.
• Note overall symmetry of the face.
• Lacerations or ecchymosis Ecchymosis Extravasation of blood into the skin, resulting in a nonelevated, rounded or irregular, blue or purplish patch, larger than a petechia. Orbital Fractures ( cephalohematoma Cephalohematoma Von Willebrand Disease or caput succedaneum) may be present if the infant was born via vacuum or forceps-assisted vaginal delivery.

Fontanelles

Palpate the anterior (3–6 cm in diameter) and posterior (1–1.5 cm) fontanelles:

• Normal: soft and flat
• Sunken: may indicate dehydration Dehydration The condition that results from excessive loss of water from a living organism. Volume Depletion and Dehydration
• Tense or bulging: may indicate increased intracranial pressure Intracranial Pressure Idiopathic Intracranial Hypertension from meningitis Meningitis Meningitis is inflammation of the meninges, the protective membranes of the brain, and spinal cord. The causes of meningitis are varied, with the most common being bacterial or viral infection. The classic presentation of meningitis is a triad of fever, altered mental status, and nuchal rigidity. Meningitis or hydrocephalus Hydrocephalus Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, intracranial. Subarachnoid Hemorrhage

Sutures

Palpate for symmetry:

• Temporary asymmetry Asymmetry Examination of the Upper Limbs from passage through the birth canal Birth canal Pelvis: Anatomy is normal (sutures overlap to allow passage through the birth canal Birth canal Pelvis: Anatomy).
• Persistent asymmetry Asymmetry Examination of the Upper Limbs may indicate craniosynostosis Craniosynostosis Craniosynostosis is the premature fusion of 1 or more cranial sutures during the 1st year of life. Craniosynostosis is classified as simple or complex, and can be caused by environmental factors or genetic syndromes. Craniosynostosis (early closure of the sutures leading to an abnormal head shape).

Eyes

• Note the spacing, symmetry, and positioning of the eyes.
  • Hypotelorism and hypertelorism Hypertelorism Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid. DiGeorge Syndrome (narrowly and widely spaced eyes) are often associated with genetic disorders.
• Note the width and slant of palpebral fissures.
• Note the appearance of the sclera Sclera The white, opaque, fibrous, outer tunic of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea. It is essentially avascular but contains apertures for vessels, lymphatics, and nerves. Eye: Anatomy, conjunctive, iris, and reactivity/symmetry of the pupils.
• Check for red reflex Red Reflex Cataracts in Children.
  • Present in all infants
  • Absent in one or both eyes Both Eyes Refractive Errors in:
    • Retinoblastoma Retinoblastoma Retinoblastoma is a rare tumor but the most common primary intraocular malignancy of childhood. It is believed that the condition arises from a neuronal progenitor cell. Retinoblastoma can be heritable or non-heritable. Retinoblastoma 
    • Congenital Congenital Chorioretinitis cataracts
    • Retinopathy Retinopathy Degenerative changes to the retina due to hypertension. Alport Syndrome of prematurity Prematurity Neonatal Respiratory Distress Syndrome
• Look for purulent discharge Purulent Discharge Dacryocystitis from the tear duct.
  • Dacryostenosis:
    • Blocked tear duct
    • Relieved by gentle massage with a warm towel
  • Ophthalmia neonatorum Ophthalmia Neonatorum Acute conjunctival inflammation in the newborn, usually caused by maternal gonococcal infection. The causative agent is Neisseria gonorrhoeae. The baby’s eyes are contaminated during passage through the birth canal. Gonorrhea:
    • Infection of the eye 
    • Associated with periocular swelling Swelling Inflammation, conjunctival injection
    • May require antimicrobials

Ears

• Appearance
  • Note the spacing, symmetry, and positioning of the ears.
  • Low-set ears Low-set ears DiGeorge Syndrome:
    • Associated with multiple genetic syndromes (e.g., Down’s syndrome, Edwards syndrome Edwards syndrome Edwards syndrome, or trisomy 18, is a genetic syndrome caused by the presence of an extra chromosome 18. The extra chromosome is either from 3 full copies of chromosome 18 or an additional segment of chromosome 18. As the 2nd most common trisomy, Edwards syndrome is seen in 1 out of every 5,500 live births. Edwards Syndrome (Trisomy 18), Patau’s syndrome)
    • Helices below the imaginary plane that go through both of the child’s inner canthi
  • Note any other abnormalities: abnormal rotation Rotation Motion of an object in which either one or more points on a line are fixed. It is also the motion of a particle about a fixed point. X-rays, pits, or skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Skin: Structure and Functions tags → should prompt evaluation of the kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys: Anatomy
  • Tympanic membranes are generally not visualized during the newborn period.
• Function
  • Hearing tests must be performed on all infants before one month of age, preferentially prior to discharge.
  • The auditory brainstem response or the otoacoustic emissions test are utilized.

Mouth

• Look for natal teeth Teeth Normally, an adult has 32 teeth: 16 maxillary and 16 mandibular. These teeth are divided into 4 quadrants with 8 teeth each. Each quadrant consists of 2 incisors (dentes incisivi), 1 canine (dens caninus), 2 premolars (dentes premolares), and 3 molars (dentes molares). Teeth are composed of enamel, dentin, and dental cement. Teeth: Anatomy.
  • Should be removed as they are an aspiration risk
  • Often seen with Pierre-Robin sequence
• Note if the mandible Mandible The largest and strongest bone of the face constituting the lower jaw. It supports the lower teeth. Jaw and Temporomandibular Joint: Anatomy and maxilla Maxilla One of a pair of irregularly shaped bones that form the upper jaw. A maxillary bone provides tooth sockets for the superior teeth, forms part of the orbit, and contains the maxillary sinus. Skull: Anatomy fit together correctly or if an under-/overbite is present.
• Examine the tongue Tongue The tongue, on the other hand, is a complex muscular structure that permits tasting and facilitates the process of mastication and communication. The blood supply of the tongue originates from the external carotid artery, and the innervation is through cranial nerves. Lips and Tongue: Anatomy and the extent of protrusion to look for ankyloglossia (“tongue-tie”).
• Visualize and palpate the palate Palate The palate is the structure that forms the roof of the mouth and floor of the nasal cavity. This structure is divided into soft and hard palates. Palate: Anatomy for the presence or absence of a cleft palate Cleft palate Congenital fissure of the soft and/or hard palate, due to faulty fusion. Cleft Lip and Cleft Palate.
  • Palpation Palpation Application of fingers with light pressure to the surface of the body to determine consistency of parts beneath in physical diagnosis; includes palpation for determining the outlines of organs. Dermatologic Examination is important because submucosal cleft palates are not visible.
  • Look for bifid or lateralized uvula Uvula A fleshy extension at the back of the soft palate that hangs above the opening of the throat. Peritonsillar Abscess as these may be a sign of cleft palate Cleft palate Congenital fissure of the soft and/or hard palate, due to faulty fusion. Cleft Lip and Cleft Palate.

Nose Nose The nose is the human body’s primary organ of smell and functions as part of the upper respiratory system. The nose may be best known for inhaling oxygen and exhaling carbon dioxide, but it also contributes to other important functions, such as tasting. The anatomy of the nose can be divided into the external nose and the nasal cavity. Nose Anatomy (External & Internal)

• Note the shape and symmetry of the nose Nose The nose is the human body’s primary organ of smell and functions as part of the upper respiratory system. The nose may be best known for inhaling oxygen and exhaling carbon dioxide, but it also contributes to other important functions, such as tasting. The anatomy of the nose can be divided into the external nose and the nasal cavity. Nose Anatomy (External & Internal). 
• Check for choanal atresia Atresia Hypoplastic Left Heart Syndrome (HLHS) by occluding each nostril in turn and noting any difficulty in respiration Respiration The act of breathing with the lungs, consisting of inhalation, or the taking into the lungs of the ambient air, and of exhalation, or the expelling of the modified air which contains more carbon dioxide than the air taken in. Nose Anatomy (External & Internal).

Neck Neck The part of a human or animal body connecting the head to the rest of the body. Peritonsillar Abscess

• Observe the neck Neck The part of a human or animal body connecting the head to the rest of the body. Peritonsillar Abscess’s range of motion Range of motion The distance and direction to which a bone joint can be extended. Range of motion is a function of the condition of the joints, muscles, and connective tissues involved. Joint flexibility can be improved through appropriate muscle strength exercises. Examination of the Upper Limbs.
  • Congenital Congenital Chorioretinitis torticollis Torticollis A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors. Cranial Nerve Palsies is a common finding due to birth trauma and is treated with physical therapy Physical Therapy Becker Muscular Dystrophy.
• Inspect and palpate the extended neck Neck The part of a human or animal body connecting the head to the rest of the body. Peritonsillar Abscess for symmetry, masses, and abnormalities.
  • Medial masses may indicate a thyroglossal duct Thyroglossal duct Thyroid Gland: Anatomy cyst.
  • Lateral masses may indicate a branchial cleft cyst.
  • Neck Neck The part of a human or animal body connecting the head to the rest of the body. Peritonsillar Abscess webbing and cystic Cystic Fibrocystic Change hygromas are associated with Down’s and Turner syndromes.

Chest

Clavicles

• Palpate for the presence of both clavicles.
• Palpate for the presence of clavicular fractures, which may occur from trauma during childbirth.

Chest

• Inspect for chest wall Chest wall The chest wall consists of skin, fat, muscles, bones, and cartilage. The bony structure of the chest wall is composed of the ribs, sternum, and thoracic vertebrae. The chest wall serves as armor for the vital intrathoracic organs and provides the stability necessary for the movement of the shoulders and arms. Chest Wall: Anatomy symmetry, spacing of the nipples, and any visible deformations.
  • Wide-set nipples may indicate Turner syndrome Turner syndrome Turner syndrome is a genetic condition affecting women, in which 1 X chromosome is partly or completely missing. The classic result is the karyotype 45,XO with a female phenotype. Turner syndrome is associated with decreased sex hormone levels and is the most common cause of primary amenorrhea. Turner Syndrome.
  • Accessory nipples may also be observed.
• Palpate for any developed breast tissue.
  • Some infants may have neonatal gynecomastia Gynecomastia Gynecomastia is a benign proliferation of male breast glandular ductal tissue, usually bilateral, caused by increased estrogen activity, decreased testosterone activity, or medications. The condition is common and physiological in neonates, adolescent boys, and elderly men. Gynecomastia.
• Inspect for chest wall Chest wall The chest wall consists of skin, fat, muscles, bones, and cartilage. The bony structure of the chest wall is composed of the ribs, sternum, and thoracic vertebrae. The chest wall serves as armor for the vital intrathoracic organs and provides the stability necessary for the movement of the shoulders and arms. Chest Wall: Anatomy movement with each breath.
  • Look for paradoxical movement of chest segments indicating paralysis of the diaphragm Diaphragm The diaphragm is a large, dome-shaped muscle that separates the thoracic cavity from the abdominal cavity. The diaphragm consists of muscle fibers and a large central tendon, which is divided into right and left parts. As the primary muscle of inspiration, the diaphragm contributes 75% of the total inspiratory muscle force. Diaphragm: Anatomy or diaphragmatic hernia Hernia Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the abdominal wall or the respiratory diaphragm. Hernias may be internal, external, congenital, or acquired. Abdominal Hernias. 
  • Note the respiratory rate Respiratory rate The number of times an organism breathes with the lungs (respiration) per unit time, usually per minute. Pulmonary Examination and heart rate Heart rate The number of times the heart ventricles contract per unit of time, usually per minute. Cardiac Physiology (measured for a full minute).
  • Note if the infant’s cry is weak or vigorous.
  • Note if supplemental oxygen Supplemental Oxygen Respiratory Failure is being delivered and by what route.
• Note any signs of respiratory distress, including:
  • Tachypnea Tachypnea Increased respiratory rate. Pulmonary Examination (> 60/min) or apnea
  • Accessory muscle use or retractions
  • Grunting or nasal flaring

Lungs Lungs Lungs are the main organs of the respiratory system. Lungs are paired viscera located in the thoracic cavity and are composed of spongy tissue. The primary function of the lungs is to oxygenate blood and eliminate CO2. Lungs: Anatomy

Auscultate the lung fields bilaterally.

• Ventilation Ventilation The total volume of gas inspired or expired per unit of time, usually measured in liters per minute. Ventilation: Mechanics of Breathing will be impaired in respiratory infections Infections Invasion of the host organism by microorganisms or their toxins or by parasites that can cause pathological conditions or diseases. Chronic Granulomatous Disease (e.g., neonatal pneumonia Neonatal Pneumonia Pneumonia in Children) and obstructive processes (e.g., meconium Meconium The thick green-to-black mucilaginous material found in the intestines of a full-term fetus. It consists of secretions of the intestinal glands; bile pigments; fatty acids; amniotic fluid; and intrauterine debris. It constitutes the first stools passed by a newborn. Prenatal and Postnatal Physiology of the Neonate aspiration).
• Abdominal sounds auscultated in the chest may indicate congenital diaphragmatic hernia Congenital Diaphragmatic Hernia Pediatric Chest Abnormalities.

Heart

• Feel the chest wall Chest wall The chest wall consists of skin, fat, muscles, bones, and cartilage. The bony structure of the chest wall is composed of the ribs, sternum, and thoracic vertebrae. The chest wall serves as armor for the vital intrathoracic organs and provides the stability necessary for the movement of the shoulders and arms. Chest Wall: Anatomy for a displaced point of maximal impulse (PMI).
• Auscultate heart sounds Heart sounds Heart sounds are brief, transient sounds produced by valve opening and closure and by movement of blood in the heart. They are divided into systolic and diastolic sounds. In most cases, only the first (S1) and second (S2) heart sounds are heard. These are high-frequency sounds and arise from aortic and pulmonary valve closure (S1), as well as mitral and tricuspid valve closure (S2). Heart Sounds.
  • Healthy: single S1 S1 Heart Sounds, split S2 S2 Heart Sounds
  • Murmurs may indicate congenital Congenital Chorioretinitis cardiopathies:
    • Physiologic murmurs due to persistent fetal circulation Fetal circulation Prenatal and Postnatal Physiology of the Neonate are common.
    • Pathological: any harsh-sounding murmur, diastolic murmur, grade 3 or higher murmur

Abdomen, Back, and Genitals

Abdomen

• General appearance: Examine for the presence of any noticeable deformities ( omphalocele Omphalocele Omphalocele is a congenital anterior abdominal wall defect in which the intestines are covered by peritoneum and amniotic membranes. The condition results from the failure of the midgut to return to the abdominal cavity by 10 weeks’ gestation. Omphalocele or gastroschisis Gastroschisis Gastroschisis is a congenital abdominal wall defect characterized by the complete lack of closure of the abdominal musculature. A portion of intestine does not return to the abdominal cavity, thereby remaining in its early embryonic herniated state but with no coverings. Gastroschisis) or abdominal distension.
• The umbilical cord Umbilical cord The flexible rope-like structure that connects a developing fetus to the placenta in mammals. The cord contains blood vessels which carry oxygen and nutrients from the mother to the fetus and waste products away from the fetus. Placenta, Umbilical Cord, and Amniotic Cavity stump:
  • Should contain 2 arteries Arteries Arteries are tubular collections of cells that transport oxygenated blood and nutrients from the heart to the tissues of the body. The blood passes through the arteries in order of decreasing luminal diameter, starting in the largest artery (the aorta) and ending in the small arterioles. Arteries are classified into 3 types: large elastic arteries, medium muscular arteries, and small arteries and arterioles. Arteries: Histology and 1 vein
  • Should be examined for bleeding or signs of infection
  • Should be examined for abdominal hernias, which must be noted and monitored for incarceration Incarceration Inguinal Canal: Anatomy and Hernias
• Palpate for the liver Liver The liver is the largest gland in the human body. The liver is found in the superior right quadrant of the abdomen and weighs approximately 1.5 kilograms. Its main functions are detoxification, metabolism, nutrient storage (e.g., iron and vitamins), synthesis of coagulation factors, formation of bile, filtration, and storage of blood. Liver: Anatomy, which should be felt 2–3 cm below the right costal border.
  • Spleen Spleen The spleen is the largest lymphoid organ in the body, located in the LUQ of the abdomen, superior to the left kidney and posterior to the stomach at the level of the 9th-11th ribs just below the diaphragm. The spleen is highly vascular and acts as an important blood filter, cleansing the blood of pathogens and damaged erythrocytes. Spleen: Anatomy is difficult to palpate.
  • Kidneys Kidneys The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. Kidneys: Anatomy may or may not be palpated.
• Auscultate for bowel sounds.

Back

Inspect and palpate for any congenital Congenital Chorioretinitis defects of the spine Spine The human spine, or vertebral column, is the most important anatomical and functional axis of the human body. It consists of 7 cervical vertebrae, 12 thoracic vertebrae, and 5 lumbar vertebrae and is limited cranially by the skull and caudally by the sacrum. Vertebral Column: Anatomy.

• Note the presence of any sacral dimples or “hair tufts,” which may indicate spina bifida occulta Spina bifida occulta A common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges. The lesion is also covered by skin. L5 and s1 are the most common vertebrae involved. The condition may be associated with an overlying area of hyperpigmented skin, a dermal sinus, or an abnormal patch of hair. The majority of individuals with this malformation are asymptomatic although there is an increased incidence of tethered cord syndrome and lumbar spondylosis. Neural Tube Defects.
• Note any skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Skin: Structure and Functions abnormalities or birthmarks.

Genitourinary

• Girls:
  • Verify the presence of the labia, urethral meatus, and vaginal opening.
    • Term female infants have prominent labia majora Labia majora Vagina, Vulva, and Pelvic Floor: Anatomy.
    • Preterm female infants have prominent labia minora Labia minora Vagina, Vulva, and Pelvic Floor: Anatomy.
    • A small amount of vaginal discharge and bleeding associated with withdrawal from maternal estrogens is normal.
  • Note any signs of virilization (fused labia, cliteromegaly).
  • Check for the presence of an imperforate hymen Imperforate Hymen Congenital Malformations of the Female Reproductive System.
• Boys:
  • Penis Penis The penis is the male organ of copulation and micturition. The organ is composed of a root, body, and glans. The root is attached to the pubic bone by the crura penis. The body consists of the 2 parallel corpora cavernosa and the corpus spongiosum. The glans is ensheathed by the prepuce or foreskin. Penis: Anatomy
    • The foreskin foreskin The double-layered skin fold that covers the glans penis, the head of the penis. Penis: Anatomy is adhered to the glans. 
    • Should be allowed to come loose on its own within the span of the 1st few months
    • Note the location of the urethral meatus:
      • Epispadias Epispadias A birth defect due to malformation of the urethra in which the urethral opening is above its normal location. In the male, the malformed urethra generally opens on the top or the side of the penis, but the urethra can also be open the entire length of the penis. In the female, the malformed urethral opening is often between the clitoris and the labia, or in the abdomen. Penile Anomalies and Conditions: Urethra Urethra A tube that transports urine from the urinary bladder to the outside of the body in both the sexes. It also has a reproductive function in the male by providing a passage for sperm. Urinary Tract: Anatomy opens on the dorsal surface of the penis Penis The penis is the male organ of copulation and micturition. The organ is composed of a root, body, and glans. The root is attached to the pubic bone by the crura penis. The body consists of the 2 parallel corpora cavernosa and the corpus spongiosum. The glans is ensheathed by the prepuce or foreskin. Penis: Anatomy.
      • Hypospadias Hypospadias A birth defect due to malformation of the urethra in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the penis or on the perineum. In the female, the malformed urethral opening is in the vagina. Penile Anomalies and Conditions: Urethra Urethra A tube that transports urine from the urinary bladder to the outside of the body in both the sexes. It also has a reproductive function in the male by providing a passage for sperm. Urinary Tract: Anatomy opens ventrally on the glans or the shaft of the penis Penis The penis is the male organ of copulation and micturition. The organ is composed of a root, body, and glans. The root is attached to the pubic bone by the crura penis. The body consists of the 2 parallel corpora cavernosa and the corpus spongiosum. The glans is ensheathed by the prepuce or foreskin. Penis: Anatomy.
  • Scrotum Scrotum A cutaneous pouch of skin containing the testicles and spermatic cords. Testicles: Anatomy
    • Look for “bifid scrotum Scrotum A cutaneous pouch of skin containing the testicles and spermatic cords. Testicles: Anatomy” or signs of ambiguous genitalia Ambiguous Genitalia Primary Amenorrhea.
    • Palpate for both testes Testes Gonadal Hormones.
      • Can sometimes be palpated in the inguinal canal Inguinal canal The tunnel in the lower anterior abdominal wall through which the spermatic cord, in the male; round ligament, in the female; nerves; and vessels pass. Its internal end is at the deep inguinal ring and its external end is at the superficial inguinal ring. Inguinal Canal: Anatomy and Hernias 
      • Should descend within the first 6 months of life
    • Cremasteric reflex Cremasteric Reflex Male Genitourinary Examination should be elicited.
    • Look for hydrocele Hydrocele Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the testis in the scrotum. Varicocele, Hydrocele, and Spermatocele or inguinal hernias Inguinal Hernias An abdominal hernia with an external bulge in the groin region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the abdominal wall (transversalis fascia) in Hesselbach’s triangle. The former type is commonly seen in children and young adults; the latter in adults. Inguinal Canal: Anatomy and Hernias.
• Both genders:
  • Verify patency of the anus.
  • Look for “sacral dimple.”
    • Any dimple that is < 2.5 cm from the anal verge and < 0.5 cm in diameter is considered normal.
    • All other sacral dimples should be investigated by ultrasound for concern for spinal malformations.

Extremities

Hips

• Inspect for any visible abnormalities.
• Use Ortolani and Barlow maneuvers to assess hip stability (may indicate developmental dysplasia of the hip Developmental dysplasia of the hip Developmental dysplasia of the hip refers to a range of disorders of the hip joint characterized by hip instability and resulting in subluxation or dislocation that mostly presents during the first few months of life. The condition is often first recognized due to hip laxity on newborn exam. Developmental Dysplasia of the Hip).
• Palpate for the femoral pulses.

Hands and feet

• Inspect for any visible abnormalities, including:
  • Syndactyly Syndactyly A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements. Development of the Limbs or polydactyly
  • Overlapping fingers (may indicate Edwards syndrome Edwards syndrome Edwards syndrome, or trisomy 18, is a genetic syndrome caused by the presence of an extra chromosome 18. The extra chromosome is either from 3 full copies of chromosome 18 or an additional segment of chromosome 18. As the 2nd most common trisomy, Edwards syndrome is seen in 1 out of every 5,500 live births. Edwards Syndrome (Trisomy 18))
  • A single palmar crease (may indicate Down’s syndrome)
• Look for talipes equinovarus Talipes equinovarus Clubfoot, also called talipes equinovarus, is a complex condition with a plantar flexed foot (equinus), adductus of the forefoot, and an inversion deformity of the heel (varus). Foot Deformities ( clubfoot Clubfoot Clubfoot, also called talipes equinovarus, is a complex condition with a plantar flexed foot (equinus), adductus of the forefoot, and an inversion deformity of the heel (varus). Foot Deformities).

Extremities

• Assess radial, posterior tibial, and dorsalis pedis pulses.
• Observe for spontaneous movement of the extremities.
  • Brachial plexus Brachial Plexus The large network of nerve fibers which distributes the innervation of the upper extremity. The brachial plexus extends from the neck into the axilla. In humans, the nerves of the plexus usually originate from the lower cervical and the first thoracic spinal cord segments (c5-c8 and T1), but variations are not uncommon. Peripheral Nerve Injuries in the Cervicothoracic Region injury during birth can give rise to various palsies:
    • Erb’s palsy Palsy paralysis of an area of the body, thus incapable of voluntary movement Cranial Nerve Palsies
      • Due to hyperextension of the C5 to C7 spinal nerve roots
      • Forearm Forearm The forearm is the region of the upper limb between the elbow and the wrist. The term “forearm” is used in anatomy to distinguish this area from the arm, a term that is commonly used to describe the entire upper limb. The forearm consists of 2 long bones (the radius and the ulna), the interosseous membrane, and multiple arteries, nerves, and muscles. Forearm: Anatomy is medially rotated, and the hand Hand The hand constitutes the distal part of the upper limb and provides the fine, precise movements needed in activities of daily living. It consists of 5 metacarpal bones and 14 phalanges, as well as numerous muscles innervated by the median and ulnar nerves. Hand: Anatomy pronated (“waiter’s tip”)
    • Klumpke’s palsy Palsy paralysis of an area of the body, thus incapable of voluntary movement Cranial Nerve Palsies
      • Injury to the distal portions of C8 and T1
      • Paralysis of the entire arm Arm The arm, or “upper arm” in common usage, is the region of the upper limb that extends from the shoulder to the elbow joint and connects inferiorly to the forearm through the cubital fossa. It is divided into 2 fascial compartments (anterior and posterior). Arm: Anatomy with areflexia Areflexia Duchenne Muscular Dystrophy

Neurologic Exam

• General
  • Tone:
    • Passive tone depends on the neonate’s maturity at birth.
    • Normal for an infant born at 24 weeks’ gestation to be more splayed out at rest
    • A full-term infant should flex all extremities at rest.
• Primitive reflexes Primitive Reflexes Primitive reflexes are involuntary motor responses that can be elicited after birth. Although these reflexes are important for survival, they gradually disappear within the 1st year of life due to their inhibition by the developing frontal lobe. Primitive Reflexes:
  • Suck reflex Suck Reflex Primitive Reflexes: Touching the roof of the mouth Roof of the mouth The palate is the structure that forms the roof of the mouth and floor of the nasal cavity. This structure is divided into soft and hard palates. Palate: Anatomy stimulates sucking/ swallowing Swallowing The act of taking solids and liquids into the gastrointestinal tract through the mouth and throat. Gastrointestinal Motility.
  • Rooting reflex Rooting Reflex Primitive Reflexes: Touching the side of the neonate’s face/cheek stimulates the neonate to turn their head to the ipsilateral side.
  • Palmar grasp Palmar Grasp Primitive Reflexes: Stroking the palm should stimulate the neonate to grasp the hand Hand The hand constitutes the distal part of the upper limb and provides the fine, precise movements needed in activities of daily living. It consists of 5 metacarpal bones and 14 phalanges, as well as numerous muscles innervated by the median and ulnar nerves. Hand: Anatomy.
  • Moro reflex:
    1. Lift the infant gently 2–3 inches by pulling the arms.
    2. Carefully release the infant’s hands.
    3. The infant should startle, which results in arm Arm The arm, or “upper arm” in common usage, is the region of the upper limb that extends from the shoulder to the elbow joint and connects inferiorly to the forearm through the cubital fossa. It is divided into 2 fascial compartments (anterior and posterior). Arm: Anatomy extension Extension Examination of the Upper Limbs followed by arm Arm The arm, or “upper arm” in common usage, is the region of the upper limb that extends from the shoulder to the elbow joint and connects inferiorly to the forearm through the cubital fossa. It is divided into 2 fascial compartments (anterior and posterior). Arm: Anatomy flexion Flexion Examination of the Upper Limbs. 
  • Deep tendon reflexes Deep Tendon Reflexes Neurological Examination can also be evaluated.
• Cranial nerve assessment

Clinical Relevance

The following conditions can be identified or suspected through physical examination of the newborn:

• Craniosynostosis Craniosynostosis Craniosynostosis is the premature fusion of 1 or more cranial sutures during the 1st year of life. Craniosynostosis is classified as simple or complex, and can be caused by environmental factors or genetic syndromes. Craniosynostosis: the premature Premature Childbirth before 37 weeks of pregnancy (259 days from the first day of the mother’s last menstrual period, or 245 days after fertilization). Necrotizing Enterocolitis fusion of one or more cranial sutures, usually classified as simple or complex. Premature Premature Childbirth before 37 weeks of pregnancy (259 days from the first day of the mother’s last menstrual period, or 245 days after fertilization). Necrotizing Enterocolitis suture fusion can cause abnormalities in skull Skull The skull (cranium) is the skeletal structure of the head supporting the face and forming a protective cavity for the brain. The skull consists of 22 bones divided into the viscerocranium (facial skeleton) and the neurocranium. Skull: Anatomy and brain Brain The part of central nervous system that is contained within the skull (cranium). Arising from the neural tube, the embryonic brain is comprised of three major parts including prosencephalon (the forebrain); mesencephalon (the midbrain); and rhombencephalon (the hindbrain). The developed brain consists of cerebrum; cerebellum; and other structures in the brain stem. Nervous System: Anatomy, Structure, and Classification growth. 
• Meningitis Meningitis Meningitis is inflammation of the meninges, the protective membranes of the brain, and spinal cord. The causes of meningitis are varied, with the most common being bacterial or viral infection. The classic presentation of meningitis is a triad of fever, altered mental status, and nuchal rigidity. Meningitis: inflammation Inflammation Inflammation is a complex set of responses to infection and injury involving leukocytes as the principal cellular mediators in the body’s defense against pathogenic organisms. Inflammation is also seen as a response to tissue injury in the process of wound healing. The 5 cardinal signs of inflammation are pain, heat, redness, swelling, and loss of function. Inflammation of the leptomeninges Leptomeninges Meninges: Anatomy due to an infectious agent. A bulging anterior fontanelle Fontanelle Any of six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant. The fontanelles normally close sometime after birth. Skull: Anatomy can be a sign of neuroinfection in neonates. Infection can be suspected if other clinical signs are present, such as temperature, tachycardia Tachycardia Abnormally rapid heartbeat, usually with a heart rate above 100 beats per minute for adults. Tachycardia accompanied by disturbance in the cardiac depolarization (cardiac arrhythmia) is called tachyarrhythmia. Sepsis in Children, and poor feeding.
• Cleft lip Cleft lip The embryological development of craniofacial structures is an intricate sequential process involving tissue growth and directed cell apoptosis. Disruption of any step in this process may result in the formation of a cleft lip alone or in combination with a cleft palate. As the most common craniofacial malformation of the newborn, the diagnosis of a cleft is clinical and usually apparent at birth. Cleft Lip and Cleft Palate and palate Palate The palate is the structure that forms the roof of the mouth and floor of the nasal cavity. This structure is divided into soft and hard palates. Palate: Anatomy: a congenital Congenital Chorioretinitis defect of the lip and usually alveolus that may involve the palate Palate The palate is the structure that forms the roof of the mouth and floor of the nasal cavity. This structure is divided into soft and hard palates. Palate: Anatomy. Cleft palate Cleft palate Congenital fissure of the soft and/or hard palate, due to faulty fusion. Cleft Lip and Cleft Palate may also occur independently of cleft lip Cleft lip The embryological development of craniofacial structures is an intricate sequential process involving tissue growth and directed cell apoptosis. Disruption of any step in this process may result in the formation of a cleft lip alone or in combination with a cleft palate. As the most common craniofacial malformation of the newborn, the diagnosis of a cleft is clinical and usually apparent at birth. Cleft Lip and Cleft Palate. Both occur when the facial structures of a fetus fail to fuse properly.
• CHARGE syndrome CHARGE Syndrome CHARGE syndrome is a rare genetic condition with autosomal dominant inheritance in which almost all body systems are affected. The acronym CHARGE stands for the constellation of clinical features seen with this condition: Coloboma, Heart defects, Atresia choanae, Growth retardation, Genetic Abnormalities, and Ear abnormalities. CHARGE Syndrome: a rare genetic disorder in children affecting almost all body systems due to impaired gene Gene A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Basic Terms of Genetics expression. CHARGE is an abbreviation of coloboma Coloboma Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. Esophageal Atresia and Tracheoesophageal Fistula, heart defects, atresia Atresia Hypoplastic Left Heart Syndrome (HLHS) choanae, growth retardation Growth Retardation Failure of a fetus to attain expected growth. Fetal Alcohol Spectrum Disorder, genetic abnormalities, and ear abnormalities. Coloboma Coloboma Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. Esophageal Atresia and Tracheoesophageal Fistula is a distinguishing clinical finding seen in children with CHARGE syndrome CHARGE Syndrome CHARGE syndrome is a rare genetic condition with autosomal dominant inheritance in which almost all body systems are affected. The acronym CHARGE stands for the constellation of clinical features seen with this condition: Coloboma, Heart defects, Atresia choanae, Growth retardation, Genetic Abnormalities, and Ear abnormalities. CHARGE Syndrome.
• Thyroglossal duct Thyroglossal duct Thyroid Gland: Anatomy cyst: most common congenital Congenital Chorioretinitis cyst found in the midline when palpating a neonate’s neck Neck The part of a human or animal body connecting the head to the rest of the body. Peritonsillar Abscess. Thyroglossal duct Thyroglossal duct Thyroid Gland: Anatomy cyst forms in the remnant of the thyroglossal tract.
• Branchial cleft remnants: cysts Cysts Any fluid-filled closed cavity or sac that is lined by an epithelium. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues. Fibrocystic Change, sinuses, or skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Skin: Structure and Functions tags along the anterior border of the sternocleidomastoid Sternocleidomastoid Muscles of the Neck: Anatomy muscle or near the angle of the mandible Mandible The largest and strongest bone of the face constituting the lower jaw. It supports the lower teeth. Jaw and Temporomandibular Joint: Anatomy, lined primarily with stratified squamous epithelium Stratified squamous epithelium Surface Epithelium: Histology. Cysts Cysts Any fluid-filled closed cavity or sac that is lined by an epithelium. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues. Fibrocystic Change may also contain lymphoid follicles Lymphoid follicles Secondary Lymphatic Organs.
• Neonatal gynecomastia Gynecomastia Gynecomastia is a benign proliferation of male breast glandular ductal tissue, usually bilateral, caused by increased estrogen activity, decreased testosterone activity, or medications. The condition is common and physiological in neonates, adolescent boys, and elderly men. Gynecomastia: breast hypertrophy Hypertrophy General increase in bulk of a part or organ due to cell enlargement and accumulation of fluids and secretions, not due to tumor formation, nor to an increase in the number of cells (hyperplasia). Cellular Adaptation due to androgens Androgens Androgens are naturally occurring steroid hormones responsible for development and maintenance of the male sex characteristics, including penile, scrotal, and clitoral growth, development of sexual hair, deepening of the voice, and musculoskeletal growth. Androgens and Antiandrogens and estrogens secreted by the mother that enter the fetal circulation Fetal circulation Prenatal and Postnatal Physiology of the Neonate.
• Neonatal pneumonia Neonatal Pneumonia Pneumonia in Children: inflammation Inflammation Inflammation is a complex set of responses to infection and injury involving leukocytes as the principal cellular mediators in the body’s defense against pathogenic organisms. Inflammation is also seen as a response to tissue injury in the process of wound healing. The 5 cardinal signs of inflammation are pain, heat, redness, swelling, and loss of function. Inflammation of the pulmonary parenchyma due to infectious agents during the neonatal period. 
• Meconium aspiration syndrome Meconium Aspiration Syndrome A condition caused by inhalation of meconium into the lung of fetus or newborn, usually due to vigorous respiratory movements during difficult parturition or respiratory system abnormalities. Meconium aspirate may block small airways leading to difficulties in pulmonary gas exchange and aspiration pneumonia. Pediatric Chest Abnormalities: respiratory distress in newborns born with meconium-stained amniotic fluid Amniotic fluid A clear, yellowish liquid that envelopes the fetus inside the sac of amnion. In the first trimester, it is likely a transudate of maternal or fetal plasma. In the second trimester, amniotic fluid derives primarily from fetal lung and kidney. Cells or substances in this fluid can be removed for prenatal diagnostic tests (amniocentesis). Placenta, Umbilical Cord, and Amniotic Cavity.  
• Truncus arteriosus Truncus arteriosus Truncus arteriosus (TA) is a congenital heart defect characterized by the persistence of a common cardiac arterial trunk tract that fails to divide into the pulmonary artery and aorta during embryonic development. Truncus arteriosus is a rare congenital malformation with a high mortality rate within the 1st 5 weeks of life if not managed promptly. Truncus Arteriosus ( TA TA Thyrotoxicosis and Hyperthyroidism): congenital Congenital Chorioretinitis cardiopathy characterized by the emergence of the pulmonary artery Pulmonary artery The short wide vessel arising from the conus arteriosus of the right ventricle and conveying unaerated blood to the lungs. Lungs: Anatomy and aorta Aorta The main trunk of the systemic arteries. Mediastinum and Great Vessels: Anatomy from a common trunk that overrides a ventricular septal defect Ventricular Septal Defect Tetralogy of Fallot (VSD).
• Transposition of the great vessels Transposition of the Great Vessels Transposition of the great vessels (TGV) is a cyanotic congenital heart disease characterized by “switching” of the great arteries. There are 2 presentations: the dextro (D)- and levo (L)-looped forms. The L-looped form is rare and congenitally corrected, as the ventricles are also switched. Transposition of the Great Arteries: congenital Congenital Chorioretinitis cyanotic cardiopathy characterized by the “switching” of the great arteries Arteries Arteries are tubular collections of cells that transport oxygenated blood and nutrients from the heart to the tissues of the body. The blood passes through the arteries in order of decreasing luminal diameter, starting in the largest artery (the aorta) and ending in the small arterioles. Arteries are classified into 3 types: large elastic arteries, medium muscular arteries, and small arteries and arterioles. Arteries: Histology. There are 2 presentations: the dextro- and levo-looped forms. A pansystolic murmur Pansystolic Murmur Transposition of the Great Arteries can be heard in cases with a VSD. Transposition of the great vessels Transposition of the Great Vessels Transposition of the great vessels (TGV) is a cyanotic congenital heart disease characterized by “switching” of the great arteries. There are 2 presentations: the dextro (D)- and levo (L)-looped forms. The L-looped form is rare and congenitally corrected, as the ventricles are also switched. Transposition of the Great Arteries can present with a systolic murmur, sometimes accompanied by a thrill.
• Tricuspid valve Tricuspid valve The valve consisting of three cusps situated between the right atrium and right ventricle of the heart. Heart: Anatomy atresia Atresia Hypoplastic Left Heart Syndrome (HLHS) (TVA): cyanotic congenital Congenital Chorioretinitis cardiopathy that consists of the lack of development of the tricuspid AV valve that presents with a holosystolic murmur Holosystolic Murmur Tricuspid Valve Atresia (TVA).
• Tetralogy of Fallot Tetralogy of Fallot Tetralogy of Fallot is the most common cyanotic congenital heart disease. The disease is the confluence of 4 pathologic cardiac features: overriding aorta, ventricular septal defect, right ventricular outflow obstruction, and right ventricular hypertrophy. Tetralogy of Fallot: cyanotic congenital Congenital Chorioretinitis cardiopathy with 4 characteristic findings: overriding aorta Overriding Aorta Tetralogy of Fallot, ventricular septal defect Ventricular Septal Defect Tetralogy of Fallot, pulmonary stenosis Stenosis Hypoplastic Left Heart Syndrome (HLHS), and right ventricular hypertrophy Right Ventricular Hypertrophy Tetralogy of Fallot. Tetralogy of Fallot Tetralogy of Fallot Tetralogy of Fallot is the most common cyanotic congenital heart disease. The disease is the confluence of 4 pathologic cardiac features: overriding aorta, ventricular septal defect, right ventricular outflow obstruction, and right ventricular hypertrophy. Tetralogy of Fallot presents with a harsh, loud systolic murmur.
• Total anomalous pulmonary venous return: rare cyanotic congenital Congenital Chorioretinitis cardiopathy that consists of the drainage of the pulmonary veins Pulmonary veins The veins that return the oxygenated blood from the lungs to the left atrium of the heart. Lungs: Anatomy to other anatomical sites other than the left atrium. Total anomalous pulmonary venous return presents with a soft mid-systolic murmur.
• Omphalocele Omphalocele Omphalocele is a congenital anterior abdominal wall defect in which the intestines are covered by peritoneum and amniotic membranes. The condition results from the failure of the midgut to return to the abdominal cavity by 10 weeks’ gestation. Omphalocele: an anterior abdominal wall Abdominal wall The outer margins of the abdomen, extending from the osteocartilaginous thoracic cage to the pelvis. Though its major part is muscular, the abdominal wall consists of at least seven layers: the skin, subcutaneous fat, deep fascia; abdominal muscles, transversalis fascia, extraperitoneal fat, and the parietal peritoneum. Surgical Anatomy of the Abdomen defect in which the intestines are covered by peritoneum Peritoneum The peritoneum is a serous membrane lining the abdominopelvic cavity. This lining is formed by connective tissue and originates from the mesoderm. The membrane lines both the abdominal walls (as parietal peritoneum) and all of the visceral organs (as visceral peritoneum). Peritoneum: Anatomy and amniotic membranes.
• Gastroschisis Gastroschisis Gastroschisis is a congenital abdominal wall defect characterized by the complete lack of closure of the abdominal musculature. A portion of intestine does not return to the abdominal cavity, thereby remaining in its early embryonic herniated state but with no coverings. Gastroschisis: a free (uncovered) protrusion of the intestine and/or other abdominal content through a defect located at the detachment of the umbilicus and normal skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Skin: Structure and Functions.
• Down’s syndrome: a genetic syndrome caused by trisomy Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Types of Mutations of chromosome Chromosome In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. Basic Terms of Genetics 21; the most frequent cause of intellectual disabilities.
• Edwards syndrome Edwards syndrome Edwards syndrome, or trisomy 18, is a genetic syndrome caused by the presence of an extra chromosome 18. The extra chromosome is either from 3 full copies of chromosome 18 or an additional segment of chromosome 18. As the 2nd most common trisomy, Edwards syndrome is seen in 1 out of every 5,500 live births. Edwards Syndrome (Trisomy 18): a genetic syndrome caused by trisomy Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Types of Mutations of chromosome Chromosome In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. Basic Terms of Genetics 18 with several characteristic findings, including a narrow skull Skull The skull (cranium) is the skeletal structure of the head supporting the face and forming a protective cavity for the brain. The skull consists of 22 bones divided into the viscerocranium (facial skeleton) and the neurocranium. Skull: Anatomy, cleft palate Cleft palate Congenital fissure of the soft and/or hard palate, due to faulty fusion. Cleft Lip and Cleft Palate and lip, cardiac murmurs, clenched overlapping fingers, and omphalocele Omphalocele Omphalocele is a congenital anterior abdominal wall defect in which the intestines are covered by peritoneum and amniotic membranes. The condition results from the failure of the midgut to return to the abdominal cavity by 10 weeks’ gestation. Omphalocele. 
• Patau’s syndrome: a genetic syndrome caused by the presence of the trisomy Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Types of Mutations of chromosome Chromosome In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. Basic Terms of Genetics 13. Some of the syndrome’s characteristic findings overlap with those found in Edwards syndrome Edwards syndrome Edwards syndrome, or trisomy 18, is a genetic syndrome caused by the presence of an extra chromosome 18. The extra chromosome is either from 3 full copies of chromosome 18 or an additional segment of chromosome 18. As the 2nd most common trisomy, Edwards syndrome is seen in 1 out of every 5,500 live births. Edwards Syndrome (Trisomy 18).
• Developmental dysplasia of the hip Developmental dysplasia of the hip Developmental dysplasia of the hip refers to a range of disorders of the hip joint characterized by hip instability and resulting in subluxation or dislocation that mostly presents during the first few months of life. The condition is often first recognized due to hip laxity on newborn exam. Developmental Dysplasia of the Hip: a group of clinical findings in which the head of the femur Head of the femur The hemispheric articular surface at the upper extremity of the thigh bone. Hip Joint: Anatomy slips out of the acetabulum, causing abnormalities in the growth and development of the hip joint Hip joint The hip joint is a ball-and-socket joint formed by the head of the femur and the acetabulum of the pelvis. The hip joint is the most stable joint in the body and is supported by a very strong capsule and several ligaments, allowing the joint to sustain forces that can be multiple times the total body weight. Hip Joint: Anatomy.