Physical Examination of the Newborn

(See also Congenital Cardiovascular Anomalies Overview of Congenital Cardiovascular Anomalies Congenital heart disease is the most common congenital anomaly, occurring in almost 1% of live births ( 1). Among birth defects, congenital heart disease is the leading cause of infant mortality... read more .)

The heart and lungs are evaluated when the infant is quiet.

The clinician should identify where the heart sounds are loudest to exclude dextrocardia. Heart rate (normal: 100 to 160 beats/minute) and rhythm are checked. Rhythm should be regular, although an irregular rhythm from premature atrial or ventricular contractions is not uncommon. A murmur heard in the first 24 hours is most commonly caused by a patent ductus arteriosus Patent Ductus Arteriosus (PDA) Patent ductus arteriosus (PDA) is a persistence of the fetal connection (ductus arteriosus) between the aorta and pulmonary artery after birth. In the absence of other structural heart abnormalities... read more . Daily heart examination confirms the disappearance of this murmur, usually within 3 days.

Femoral pulses are checked and compared with brachial pulses. A weak or delayed femoral pulse suggests aortic coarctation Coarctation of the Aorta Coarctation of the aorta is a localized narrowing of the aortic lumen that results in upper-extremity hypertension, left ventricular hypertrophy, and, if severe, malperfusion of the abdominal... read more or other left ventricular outflow tract obstruction. Central cyanosis suggests congenital heart disease, pulmonary disease, or sepsis Neonatal Sepsis Neonatal sepsis is invasive infection, usually bacterial, occurring during the neonatal period. Signs are multiple, nonspecific, and include diminished spontaneous activity, less vigorous sucking... read more .

The respiratory system is evaluated by counting respirations over a full minute because breathing in neonates is irregular; normal rate is 40 to 60 breaths/minute. The chest wall should be examined for symmetry, and lung sounds should be equal throughout. Grunting, nasal flaring, and retractions are signs of respiratory distress Overview of Perinatal Respiratory Disorders Extensive physiologic changes accompany the birth process (see also Neonatal Pulmonary Function), sometimes unmasking conditions that posed no problem during intrauterine life. For that reason... read more .

In a vertex delivery, the head is commonly molded with overriding of the cranial bones at the sutures and some swelling and ecchymosis of the scalp (caput succedaneum Caput succedaneum The forces of labor and delivery occasionally cause physical injury to the infant. The incidence of neonatal injury resulting from difficult or traumatic deliveries is decreasing due to increasing... read more ). In a breech delivery Breech presentation Fetal dystocia is abnormal fetal size or position resulting in difficult delivery. Diagnosis is by examination, ultrasonography, or response to augmentation of labor. Treatment is with physical... read more , the head has less molding, with swelling and ecchymosis occurring in the presenting part (ie, buttocks, genitals, or feet). The fontanelles vary in diameter from a fingertip breadth to several centimeters. A large anterior fontanelle and anything more than a fingertip breadth posterior fontanelle may be signs of hypothyroidism Hypothyroidism in Infants and Children Hypothyroidism is thyroid hormone deficiency. Symptoms in infants include poor feeding and growth failure; symptoms in older children and adolescents are similar to those of adults but also... read more .

A cephalohematoma Cephalhematoma The forces of labor and delivery occasionally cause physical injury to the infant. The incidence of neonatal injury resulting from difficult or traumatic deliveries is decreasing due to increasing... read more is a common finding; blood accumulates between the periosteum and the bone, producing a swelling that does not cross suture lines. It may occur over one or both parietal bones and occasionally over the occiput. Cephalohematomas usually are not evident until soft-tissue edema subsides; they gradually disappear over several months.

Head size and shape are inspected to detect congenital hydrocephalus Hydrocephalus Hydrocephalus is accumulation of excessive amounts of cerebrospinal fluid, causing cerebral ventricular enlargement and/or increased intracranial pressure. Manifestations can include enlarged... read more .

Numerous genetic syndromes cause craniofacial abnormalities Overview of Congenital Craniofacial Abnormalities Congenital craniofacial abnormalities are a group of defects caused by abnormal growth and/or development of the head and facial soft-tissue structures and/or bones. (See also Introduction to... read more . The face is inspected for symmetry and normal development, particularly of the mandible, palate, pinnae, and external auditory canals.

The eyes may be easier to examine the day after birth because the birth process causes swelling around the eyelids. Eyes should be examined for the red reflex; its absence may indicate glaucoma Primary Infantile Glaucoma Primary infantile glaucoma is a rare developmental defect in the iridocorneal filtration angle of the anterior chamber that prevents aqueous fluid from properly draining from the eye. This obstruction... read more , cataracts Congenital Cataract Congenital cataract is a lens opacity that is present at birth or shortly after birth. Diagnosis is clinical and sometimes with imaging. Treatment is surgical removal of the cataract. (See also... read more , or retinoblastoma Retinoblastoma Retinoblastoma is a cancer of the retina that occurs almost exclusively in children Retinoblastoma occurs in 1/15,000 to 1/30,000 live births and represents about 2% of childhood cancers ( 1)... read more . Subconjunctival hemorrhages are common and caused by forces exerted during delivery.

Low-set ears may indicate genetic anomalies Overview of Chromosomal Abnormalities Chromosomal abnormalities cause various disorders. Abnormalities that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect... read more , including trisomy 18 Trisomy 18 Trisomy 18 is caused by an extra chromosome 18 and is usually associated with intellectual disability, small birth size, and various congenital anomalies, including severe microcephaly, heart... read more and trisomy 21 Down Syndrome (Trisomy 21) Down syndrome is an abnormality of chromosome 21 that can cause intellectual disability, microcephaly, short stature, and characteristic facies. Diagnosis is suggested by physical anomalies... read more (Down syndrome). Malformed ears, external auditory canals, or both may be present in many genetic syndromes. Clinicians should look for external ear pits or tags Congenital Ear Abnormalities Ears can be absent, deformed, or incompletely developed at birth. (See also Introduction to Congenital Craniofacial and Musculoskeletal Disorders and Overview of Congenital Craniofacial Abnormalities... read more , which are sometimes associated with hearing loss and kidney abnormalities.

The clinician should inspect and palpate the palate to check for soft or hard palate defects. Orofacial clefts Cleft Lip and Cleft Palate An oral-facial cleft is a birth defect in which the lip, the roof of the mouth, or both do not close in the midline and remain open, creating a cleft lip and/or cleft palate. These defects are... read more are among the most common congenital defects. Some neonates are born with an epulis (a benign hamartoma of the gum), which, if large enough, can cause feeding difficulties and may obstruct the airway. These lesions can be removed; they do not recur. Some neonates are born with primary or natal teeth. Natal teeth do not have roots and may need to be removed to prevent them from falling out and being aspirated. Inclusion cysts called Epstein pearls may occur on the roof of the mouth.

When examining the neck, the clinician must lift the chin to look for abnormalities such as cystic hygromas Lymphatic Malformations Lymphatic vascular malformations are elevated lesions composed of dilated lymphatic vessels. This photo shows a cystic hygroma, or lymphatic malformation, on the neck of a 2-year-old girl. This... read more , goiters Congenital Goiter Congenital goiter is a diffuse or nodular enlargement of the thyroid gland present at birth. Thyroid hormone secretion may be decreased, increased, or normal. Diagnosis is made by confirming... read more , and branchial arch remnants. Torticollis Congenital torticollis Neck and back abnormalities can be caused by soft-tissue or bony injuries or by vertebral anomalies. (See also Introduction to Congenital Craniofacial and Musculoskeletal Disorders.) Vertebral... read more can be caused by a sternocleidomastoid hematoma due to birth trauma.

The abdomen should be round and symmetric. A scaphoid abdomen may indicate a diaphragmatic hernia Diaphragmatic Hernia Diaphragmatic hernia is protrusion of abdominal contents into the thorax through a defect in the diaphragm. Lung compression may cause persistent pulmonary hypertension. Diagnosis is by chest... read more , allowing the intestine to migrate through it to the chest cavity in utero; pulmonary hypoplasia and postnatal respiratory distress may result. An asymmetric abdomen suggests an abdominal mass.

The splenic edge is palpable in about 30% of newborns. Splenomegaly (splenic edge palpable > 2 cm below the left costal margin) suggests congenital infection or hemolytic anemia.

The kidneys may be palpable with deep palpation; the left is more easily palpated than the right. Large kidneys may indicate obstruction, tumor, or cystic disease.

The liver is normally palpable 1 to 2 cm below the costal margin. An umbilical hernia Classification of Abdominal Hernias A hernia of the abdominal wall is a protrusion of the abdominal contents through an acquired or congenital area of weakness or defect in the wall. Many hernias are asymptomatic, but some become... read more , due to a weakness of the umbilical ring musculature, is common but rarely significant. The presence of a normally placed, patent anus should be confirmed.

In boys, the penis should be examined for hypospadias Hypospadias Congenital anomalies of the urethra in boys usually involve anatomic abnormalities of the penis and vice versa. In girls, urethral anomalies may exist without other external genital abnormalities... read more or epispadias Epispadias Congenital anomalies of the urethra in boys usually involve anatomic abnormalities of the penis and vice versa. In girls, urethral anomalies may exist without other external genital abnormalities... read more . In term boys, the testes should be in the scrotum (see Cryptorchidism Cryptorchidism Cryptorchidism is failure of one or both testes to descend into the scrotum; in younger children, it is typically accompanied by inguinal hernia. Diagnosis is by testicular examination, sometimes... read more ). Scrotal swelling may signify hydrocele Congenital hydrocele The most common testicular and scrotal anomalies are Congenital hydrocele Undescended testes ( cryptorchidism) Testicular torsion Rare anomalies include scrotal agenesis, hypoplasia, ectopia... read more , inguinal hernia Inguinal Hernia in Neonates Inguinal hernias develop most often in male neonates, particularly if they are preterm (in which case the incidence is about 10%). The right side is affected most commonly, and about 10% of... read more , or, more rarely, testicular torsion Testicular Torsion Testicular torsion is an emergency condition due to rotation of the testis and consequent strangulation of its blood supply. Symptoms are acute scrotal pain and swelling, nausea, and vomiting... read more . With hydrocele, the scrotum transilluminates. Torsion, a surgical emergency, causes ecchymosis and firmness.

In term girls, the labia are prominent. Mucoid vaginal and serosanguineous secretions (pseudomenses) are normal; they result from exposure to maternal hormones in utero and withdrawal at birth. A small tag of hymenal tissue at the posterior fourchette, believed to be due to maternal hormonal stimulation, is sometimes present but disappears over a few weeks.

Ambiguous genitals (intersex) may indicate several uncommon disorders (eg, congenital adrenal hyperplasia Overview of Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia is a group of genetic disorders, each characterized by inadequate synthesis of cortisol, aldosterone, or both. In the most common forms, accumulated hormone precursors... read more ; 5-alpha-reductase deficiency; Klinefelter syndrome Klinefelter Syndrome (47,XXY) Klinefelter syndrome is the presence of two or more X chromosomes plus one Y, resulting in a phenotypic male. Diagnosis is based on clinical findings and is confirmed by cytogenetic analysis... read more , Turner syndrome Turner Syndrome In Turner syndrome, girls are born with one of their two X chromosomes partly or completely missing. Diagnosis is based on clinical findings and is confirmed by cytogenetic analysis. Treatment... read more , or Swyer syndrome). Referral to an endocrinologist is indicated for evaluation as is a discussion with the family about benefits and risks of immediate vs delayed sex assignment.

The extremities are examined for deformities, amputations (incomplete or missing limbs Limb deficiencies Congenital limb defects involve missing, incomplete, supernumerary, or abnormally developed limbs present at birth. (See also Introduction to Congenital Craniofacial and Musculoskeletal Disorders... read more ), contractures, and maldevelopment. Brachial nerve palsy Brachial Plexus Injuries in Neonates The forces of labor and delivery occasionally cause physical injury to the infant. The incidence of neonatal injury resulting from difficult or traumatic deliveries is decreasing due to increasing... read more due to birth trauma may manifest as limited or no spontaneous arm movement on the affected side, sometimes with adduction and internal rotation of the shoulder and pronation of the forearm.

The spine is inspected for signs of spina bifida Spina Bifida Spina bifida is defective closure of the vertebral column. Although the cause is often unknown, low folate levels during pregnancy increase risk. Some children are asymptomatic, and others have... read more , particularly exposure of the meninges, spinal cord, or both (meningomyelocele).

Orthopedic examination includes palpation of long bones for birth trauma (particularly clavicle fracture) but is focused on detection of hip dysplasia Developmental Dysplasia of the Hip (DDH) Developmental dysplasia of the hip (formerly congenital dislocation of the hip) is abnormal development of the hip joint. (See also Introduction to Congenital Craniofacial and Musculoskeletal... read more . Risk factors for dysplasia include female sex, breech position in utero, twin gestation, and family history. The Barlow and Ortolani maneuvers are used to check for dysplasia. These maneuvers must be done when neonates are quiet. The starting position is the same for both: Neonates are placed on their back with their hips and knees flexed to 90° (the feet will be off the bed), feet facing the clinician, who places an index finger on the greater trochanter and a thumb on the lesser trochanter.

For the Barlow maneuver, the clinician adducts the hip (ie, the knee is drawn across the body) while pushing the thigh posteriorly. A felt but not heard clunk indicates that the head of the femur has moved out of the acetabulum; the Ortolani maneuver then relocates it and confirms the diagnosis.

For the Ortolani maneuver, the hip is returned to the starting position; then the hip being tested is abducted (ie, the knee is moved away from the midline toward the examining table into a frog-leg position) and gently pulled anteriorly. A palpable clunk of the femoral head with abduction signifies movement of an already dislocated femoral head into the acetabulum and constitutes a positive test for hip dysplasia.

The maneuvers may be falsely negative in infants > 3 months because of tighter hip muscles and ligaments. If the examination is equivocal or the infant is at high risk (eg, girls who were in the breech position), hip ultrasonography should be done at 4 to 6 weeks; some experts recommend screening ultrasonography at 4 to 6 weeks for all infants with risk factors.

The neonate’s tone, level of alertness, movement of extremities, and reflexes are evaluated. Typically, neonatal reflexes, including the Moro, suck, and rooting reflexes, are elicited:

These reflexes are present for several months after birth and are markers of a normal peripheral nervous system.

A neonate’s skin is usually ruddy; cyanosis of fingers and toes is common in the first few hours. Vernix caseosa covers most neonates > 24 weeks' gestation. Dryness and peeling often develop within days, especially at wrist and ankle creases.

Petechiae may occur in areas traumatized during delivery, such as the face when the face is the presenting part; however, neonates with diffuse petechiae should be evaluated for thrombocytopenia.

Many neonates have erythema toxicum, a benign rash with an erythematous base and a white or yellow papule. This rash, which usually appears 24 hours after birth, is scattered over the body and can last for up to 2 weeks.