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 defects or genetic disorders
• Complications during pregnancy Pregnancy Pregnancy is the time period between fertilization of an oocyte and delivery of a fetus approximately 9 months later. The 1st sign of pregnancy is typically a missed menstrual period, after which, pregnancy should be confirmed clinically based on a positive β-hCG test (typically a qualitative urine test) and pelvic ultrasound. Pregnancy: Diagnosis, Maternal Physiology, and Routine Care:
  • Gestational diabetes 
  • 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
• Social behaviors (tobacco use, illicit drug use, alcohol use)
• Preventative care during pregnancy Pregnancy Pregnancy is the time period between fertilization of an oocyte and delivery of a fetus approximately 9 months later. The 1st sign of pregnancy is typically a missed menstrual period, after which, pregnancy should be confirmed clinically based on a positive β-hCG test (typically a qualitative urine test) and pelvic ultrasound. Pregnancy: Diagnosis, Maternal Physiology, and Routine 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 A vaccine is usually an antigenic, non-virulent form of a normally virulent microorganism. Vaccinations are a form of primary prevention and are the most effective form due to their safety, efficacy, low cost, and easy access. Vaccination during pregnancy Pregnancy Pregnancy is the time period between fertilization of an oocyte and delivery of a fetus approximately 9 months later. The 1st sign of pregnancy is typically a missed menstrual period, after which, pregnancy should be confirmed clinically based on a positive β-hCG test (typically a qualitative urine test) and pelvic ultrasound. Pregnancy: Diagnosis, Maternal Physiology, and Routine Care
  • Rhogam administration, if applicable
• Results of screening tests, including:
  • Genetic screenings
  • Glucose tolerance test (gestational diabetes screening)
  • HIV 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. Overview: Sexually Transmitted Infections ( 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. Overview: Sexually Transmitted Infections) screening
  • Urine drug screening

Infant’s birth history

• Gestational age
• Labor Labor Labor is the normal physiologic process defined as uterine contractions resulting in dilatation and effacement of the cervix, which culminates in expulsion of the fetus and the products of conception. Normal and Abnormal 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) status
  • Shoulder dystocia 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 Cerebral palsy Cerebral palsy (CP) refers to a group of conditions resulting in motor impairment affecting tone and posture and limiting physical activity. Cerebral palsy is the most common cause of childhood disability. It is caused by a nonprogressive CNS injury to the fetal or infant brain. Cerebral Palsy rates.

Vital Signs

The normal range for neonatal vital signs is unique.

• Temperature: 36.5℃–37.6℃ (97.7℉–99.5℉) 
• Heart rate: 120–160/min
• Respiratory rate: 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 should be plotted daily on a growth chart.

• Length 
• Weight
  • Below the 10th percentile is small for gestational age (SGA).
  • Above the 90th percentile is large for gestational age (LGA).
• Head circumference
  • Below the 2nd percentile is considered microcephaly.
  • Above the 98th percentile is considered macrocephaly.

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 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 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 or diaphragmatic hernia. 
  • Note the respiratory rate and heart rate (measured for a full minute).
  • Note if the infant’s cry is weak or vigorous.
  • Note if supplemental oxygen is being delivered and by what route.
• Note any signs of respiratory distress, including:
  • Tachypnea (> 60/min) or apnea
  • Accessory muscle use or retractions
  • Grunting or nasal flaring

Lungs

Auscultate the lung fields bilaterally.

• Ventilation will be impaired in respiratory infections (e.g., neonatal pneumonia Pneumonia Pneumonia or pulmonary inflammation is an acute or chronic inflammation of lung tissue. Causes include infection with bacteria, viruses, or fungi. In more rare cases, pneumonia can also be caused through toxic triggers through inhalation of toxic substances, immunological processes, or in the course of radiotherapy. Pneumonia) and obstructive processes (e.g., meconium aspiration).
• Abdominal sounds auscultated in the chest may indicate congenital diaphragmatic hernia.

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 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, split S2
  • Murmurs may indicate congenital cardiopathies: 
    • Physiologic murmurs due to persistent fetal circulation are common.
    • Pathological: any harsh-sounding murmur, diastolic murmur, grade 3 or higher murmur

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 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 (clubfoot).

Extremities

• Assess radial, posterior tibial, and dorsalis pedis pulses.
• Observe for spontaneous movement of the extremities.
  • Brachial plexus injury during birth can give rise to various palsies:
    • Erb’s palsy
      • 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 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 pronated (“waiter’s tip”)
    • Klumpke’s palsy
      • 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 with areflexia

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: Touching the roof of the mouth stimulates sucking/swallowing.
  • Rooting reflex: Touching the side of the neonate’s face/cheek stimulates the neonate to turn their head to the ipsilateral side.
  • Palmar grasp: 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.
  • 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 extension 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 flexion. 
  • Deep tendon reflexes can also be evaluated.
• Cranial nerve assessment

Clinical Relevance

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

• Craniosynostosis: the premature fusion of one or more cranial sutures, usually classified as simple or complex. Premature suture fusion can cause abnormalities in skull and brain growth. 
• 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 due to an infectious agent. A bulging anterior fontanelle can be a sign of neuroinfection in neonates. Infection can be suspected if other clinical signs are present, such as temperature, tachycardia, and poor feeding.
• Cleft lip 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. Oral Cavity: Palate: a congenital 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. Oral Cavity: Palate. Cleft 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. Oral Cavity: 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 expression. CHARGE is an abbreviation of coloboma, heart defects, atresia choanae, growth retardation, genetic abnormalities, and ear abnormalities. Coloboma 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 cyst: most common congenital cyst found in the midline when palpating a neonate’s neck. Thyroglossal duct cyst forms in the remnant of the thyroglossal tract.
• Branchial cleft remnants: cysts, 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. Structure and Function of the Skin tags along the anterior border of the sternocleidomastoid muscle or near the angle of the mandible, lined primarily with stratified squamous epithelium Epithelium The epithelium is a complex of specialized cellular organizations arranged into sheets and lining cavities and covering the surfaces of the body. The cells exhibit polarity, having an apical and a basal pole. Structures important for the epithelial integrity and function involve the basement membrane, the semipermeable sheet on which the cells rest, and interdigitations, as well as cellular junctions. Surface Epithelium. Cysts may also contain lymphoid follicles.
• 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 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.
• Neonatal pneumonia Pneumonia Pneumonia or pulmonary inflammation is an acute or chronic inflammation of lung tissue. Causes include infection with bacteria, viruses, or fungi. In more rare cases, pneumonia can also be caused through toxic triggers through inhalation of toxic substances, immunological processes, or in the course of radiotherapy. Pneumonia: 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: respiratory distress in newborns born with meconium-stained amniotic fluid.  
• 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): congenital cardiopathy characterized by the emergence of the pulmonary artery and aorta from a common trunk that overrides a ventricular septal defect (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 Vessels: congenital 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. There are 2 presentations: the dextro- and levo-looped forms. A pansystolic murmur 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 Vessels can present with a systolic murmur, sometimes accompanied by a trill.
• Tricuspid valve atresia (TVA): cyanotic congenital cardiopathy that consists of the lack of development of the tricuspid AV valve that presents with a holosystolic murmur.
• 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 cardiopathy with 4 characteristic findings: overriding aorta, ventricular septal defect, pulmonary stenosis Pulmonary stenosis Valvular disorders can arise from the pulmonary valve, located between the right ventricle (RV) and the pulmonary artery (PA). Valvular disorders are diagnosed by echocardiography. Pulmonary stenosis (PS) is valvular narrowing causing RV outflow tract obstruction. Pulmonary Stenosis, and right ventricular hypertrophy. 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 cardiopathy that consists of the drainage of the pulmonary veins Veins Veins are tubular collections of cells, which transport deoxygenated blood and waste from the capillary beds back to the heart. Veins are classified into 3 types: small veins/venules, medium veins, and large veins. Each type contains 3 primary layers: tunica intima, tunica media, and tunica adventitia. Veins to other anatomical sites other than the left atrium. Total anomalous pulmonary venous return presents with a soft mid-systolic murmur.
• Omphalocele: an anterior abdominal wall Anterior abdominal wall The anterior abdominal wall is anatomically delineated as a hexagonal area defined superiorly by the xiphoid process, laterally by the midaxillary lines, and inferiorly by the pubic symphysis. Anterior Abdominal Wall 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 and Retroperitoneum and amniotic membranes.
• 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. Structure and Function of the Skin.
• Down’s syndrome: a genetic syndrome caused by trisomy of chromosome 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 of chromosome 18 with several characteristic findings, including a narrow skull, cleft palate cleft palate 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 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 of chromosome 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: a group of clinical findings in which the head of the femur 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.