The Newborn Examination: Part I. Emergencies and Common Abnormalities Involving the Skin, Head, Neck, Chest, and Respiratory and Cardiovascular Systems

MAMTA FULORIA, M.D., and SHELLEY KREITER, M.D., Wake Forest University School of Medicine, Winston-Salem, North Carolina

Am Fam Physician. 2002 Jan 1;65(1):61-69.

The routine newborn assessment should include an examination for size, macrocephaly or microcephaly, changes in skin color, signs of birth trauma, malformations, evidence of respiratory distress, level of arousal, posture, tone, presence of spontaneous movements, and symmetry of movements. A newborn with one anatomic malformation should be evaluated for associated anomalies. Total and direct bilirubin levels should be measured in newborns with jaundice, and a complete blood count should be obtained in those with pallor or a ruddy complexion. Neurosurgical consultation is necessary in infants with craniosynostosis accompanied by restricted brain growth or hydrocephalus, cephaloceles, or exophytic scalp nodules. Neck masses can be identified by their location and include vascular malformations, abnormal lymphatic tissue, teratomas, and dermoid cysts. Most facial nerve palsies resolve spontaneously. Conjunctivitis is relatively common in newborns. Infants with chest abnormalities may need to be evaluated for Poland's syndrome or Turner's syndrome. Murmurs in the immediate newborn period are usually innocent and represent a transition from fetal to neonatal circulation. Because cyanosis is primarily secondary to respiratory or cardiac causes, affected newborns should be evaluated expeditiously, with the involvement of a cardiologist or neonatologist.

A careful examination at delivery helps the physician detect anomalies, birth injuries, and cardiorespiratory disorders that may compromise a newborn's successful adaptation to extrauterine life. A detailed examination should also be performed after the newborn has completed the transition from fetal to neonatal life. The examination may begin with an evaluation of neonatal size (Table 1). The presence of one anatomic malformation should prompt an evaluation for associated anomalies. Part I of this two-part article focuses on anomalies and disorders involving the skin, head and neck, chest, and respiratory and cardiovascular systems.

TABLE 1Factors to Consider in Evaluating Size in Newborns

Small for gestational age (birth weight below 10th percentile)SymmetricFeatures: onset early in gestation; brain size corresponding with body size; glycogen and fat content corresponding with body size (hence, lower risk of hypoglycemia)Etiology: environmental factors such as smoking or drugs (heroin, methadone, ethanol, phenytoin [Dilantin]); genetic factors such as small maternal size or chromosomal disorder (trisomy 13, 18, and 21 syndromes, Turner's syndrome); intrauterine infections such as TORCH, bacterial (tuberculosis), or spirochetic (syphilis); metabolic disorders such as phenylketonuria

AsymmetricFeatures: onset late in gestation; no effect or minimal effect on fetal brain growth; reduced glycogen and fat content relative to body size (hence, increased risk of hypoglycemia); increased risk of perinatal asphyxia and polycythemia (hyperviscosity)Etiology: uteroplacental insufficiency with chronic fetal hypoxiaLarge for gestational age (birth weight above 90th percentile)Features: increased incidence of perinatal asphyxia and birth injuries; respiratory distress syndrome; hypoglycemiaEtiology: maternal diabetes (increased likelihood of large birth size, respiratory distress syndrome, and hypoglycemia)

TORCH =toxoplasmosis,other viruses,rubella,cytomegaloviruses,herpes [simplex] viruses.

Skin

Erythema toxicum neonatorum, transient neonatal pustular melanosis, sucking blister, miliaria, and mongolian spots are among the many benign skin conditions that can occur in newborns. Total and direct bilirubin levels should be measured in newborns with jaundice, and various causes for this condition should be considered (Table 2). The American Academy of Pediatrics1 has published guidelines on the management of hyperbilirubinemia in healthy term infants. A complete blood count should be obtained in newborns with pallor or a ruddy complexion.

TABLE 2Causes of Hyperbilirubinemia in Newborns

Unconjugated hyperbilirubinemiaPhysiologic hyperbilirubinemia (most common cause)Breastfeeding and breastmilk jaundiceIncreased production of bilirubin: hemolysis (immune or nonimmune), sequestered blood (subdural hematoma, cephalhematoma, hemangioma, ecchymosis), polycythemia, sepsisDecreased hepatic uptake or conjugation: hypothyroidism, Gilbert syndrome, Crigler-Najjar syndrome (types I and II), transient familial neonatal hyperbilirubinemia (Lucey-Driscoll syndrome)Conjugated hyperbilirubinemiaHepatobiliary disorders: neonatal idiopathic hepatitis, infections (TORCH, echovirus, syphilis, systemic infections), prolonged parenteral nutrition, severe hemolytic disease, metabolic disorders (galactosemia, glycogen storage diseases)Ductal disturbances in bilirubin excretion: biliary atresia, choledochal cyst, bile plug syndrome

TORCH =toxoplasmosis,other viruses,rubella,cytomegaloviruses,herpes [simplex] viruses.

The diagnosis and treatment of cutaneous vascular lesions in newborns are reviewed elsewhere.2

Head and Neck

Head circumference and fontanelle size can indicate a congenital disorder or head trauma (Tables 3 and 4 3 ). Craniosynostosis, or premature fusion of cranial sutures, results in growth restriction perpendicular to the affected suture(s) and compensatory overgrowth in unrestricted regions4 (Figure 1). This anomaly may suggest a genetic disorder such as Apert's syndrome or Crouzon's disease. If the synostosis is accompanied by restricted brain growth or hydrocephalus, neurosurgical intervention is necessary.

TABLE 3Head Circumference and Fontanelle Size in Newborns*

Macrocephaly: as an isolated anomaly, is often familial, with autosomal dominant inheritance; may be a manifestation of other anomalies, including hydrocephalus and skeletal disorders such as achondroplasiaMicrocephaly: can be familial, with autosomal dominant or recessive inheritance; may be associated with infections (viruses such as cytomegalovirus) and syndromes such as trisomy 13 and 18, Cornelia de Lange's, Rubinstein-Taybi, Prader-Willi, and fetal alcoholLarge fontanelles: may be associated with hypothyroidism, trisomy 13, 18, and 21 syndromes, and bone disorders such as cleidocranial dysostosis or hypophosphatasia

*—The size of the head and the anterior and posterior fontanelles should be compared with appropriate standards. Head size varies with age, sex, and ethnicity and has a general correlation with body size.

TABLE 4Common Forms of Head Trauma in Newborns

Caput succedaneumCommonly observed after prolonged laborSecondary to accumulation of blood or serum above the periosteumClinical features: poorly demarcated soft tissue swelling that crosses suture lines; accompanying pitting edema and overlying petechiae, ecchymoses and purpuraTreatment: none needed because condition usually resolves within daysCephalhematomaLess common than caput succedaneum but may occur after prolonged labor and instrumentationSecondary to rupture of blood vessels that traverse skull to periosteumClinical features: well-demarcated, often fluctuant swelling that does not cross suture lines; no overlying skin discoloration; possibly, skull fractures; sometimes, elevated ridge of organizing tissueComplications: intracranial hemorrhage with resultant shock; hyperbilirubinemiaTreatment: none recommended for uncomplicated lesions, which usually reabsorb in 2 weeks to 3 months; for suspected or detected fracture, radiographs again at 4 to 6 weeks to ensure closure of linear fractures and to exclude formation of leptomeningeal cysts, which can be detected by radiography (if there is doubt, cranial computed tomographic scanning can be helpful)3; for depressed skull fractures, immediate neurosurgical consultation

FIGURE 1.

Skull shapes associated with premature closure of single sutures. Arrows denote directions of continued growth across sutures that remain open. Heavy lines indicate areas of maximal skull flattening. When combinations of sutures remain closed, more complex skull shapes occur.

Large meningoceles or encephaloceles are usually diagnosed prenatally or at birth. Smaller defects may be mistaken for cutaneous lesions such as hemangiomas or dermoid cysts. Congenital exophytic scalp nodules should always be evaluated further, because 20 to 37 percent of these lesions connect to the underlying central nervous system.5 Cutaneous signs of cranial dysraphism include the “hair collar sign” (darker, coarser hair encircling the scalp nodule), vascular malformations, and cutaneous dimples and sinuses. Cephaloceles and exophytic scalp nodules should be assessed by magnetic resonance imaging (MRI), and a neurosurgical consultation should be obtained.5

The most common neck masses are vascular malformations, abnormal lymphatic tissue, teratomas, and dermoid cysts. Neck masses can be identified based on their location (Figure 2).6 Thyroglossal duct cysts, one of the most frequent congenital anomalies of the neck, are typically midline and inferior to the hyoid bone. Surgical consultation is required in newborns with thyroglossal duct cysts.

FIGURE 2.

Identification of neck masses based on their location.

KEY:

1 = Preauricular area (parotid gland): congenital lesions-cystic hygroma, hemangioma, venous malformation; inflammatory condition-lymphadenitis secondary to infection in upper face and/or anterior scalp

2 = Postauricular area: congenital lesions-branchial cleft I (cystic, inflamed, or both); inflammatory condition-lymphadenitis secondary to inflammation of posterior scalp

3 = Submental area: congenital lesions-thyroglossal duct cyst, cystic hygroma, dermoid cyst, venous malformation; inflammatory condition-lymphadenitis secondary to inflammation in perioral area, anteriour oral area, or nasal cavity

4 = Submandibular area: congenital lesions-cystic hygroma, hamangioma, ranula; inflammatory condition-lymphadenitis of submandibular gland secondary to inflammation in cheek and/or mid-oral cavity; in cystic fibrosis, enlartement of submandibular gland without inflammation

5 = Jugulodiagastric area (tonsil node; normal structures include transverse process of C2 and styloid process): congenital lesions-bronchial cleft I or II, hemangioma, cystic hygrom; inflammatory condition- lymphadenitis secondary to oropharyngeal inflammation

6 = Area of neck midline (normal structures include hyoid, thyrouid isthmus, and thyroid cartilage): congenital lesions-thyroglossal duct cyst, dermoid cyst; inflammatory condition-lymphadenitis

7 = Area at anterior border of sternocleidomastoid muscle (normal structures include hyoid, thyroid cartilage, and carotid bulb): congenital lesions-branchial cleft I, II, or III (IV is rare), laryngocele, hemangioma, lymphangioma, hematoma (fibroma of sternocleidomastoid muscle)

8 = Spinal accessorry: inflammatory condition-lymphadenitis secondary to nasopharyngeal inflammation

9 = Paratracheal area: thyroid mass, parathyroid mass, esophageal diverticulum, metastatic lesion

10 = Supraclavicular area (normal structures include fat pad, pneumatocele from apical lobe related to defect in Gibson fascia[prominent mass with Valsalva's maneuver]): congenital lesion-cystic hygroma; neoplastic lesion-lipoma.

11 = Suprasternal area: thyroid mass, lipoma, dermoid cyst, thymis mass, mediastinal mass

Information from May M. Neck masses in children: diagnosis and treatment. Pediatr Ann 1976;5:518–35.

Clavicular fractures are the most common broken bones in newborns, especially large neonates. Of these, greenstick fractures are the most frequent and are usually asymptomatic. Newborns may present with decreased or absent movement and pain or tenderness on movement of the arm on the affected side, deformity and discoloration over the fracture site, and crepitus or irregularity along the clavicle. Treatment is directed at minimizing the newborn's pain or discomfort. If the newborn with clavicular fracture is in pain, the affected arm should be immobilized, with the arm abducted more than 60 degrees and the elbow flexed more than 90 degrees.3

FACE

Facial nerve paralysis is caused by compression of the nerve against the sacral promontory or by trauma resulting from the use of forceps during delivery. Paralysis is usually apparent on the first or second day of life. The nasolabial fold on the paralyzed side is obliterated, and the corner of the mouth droops; with crying, the mouth is drawn to the normal side4 (Figure 3). With peripheral facial nerve paresis, the forehead and eyes may be affected.

FIGURE 3.

Asymmetry caused by facial nerve paralysis, with inability to close eye, nasolabial fold flattening, and inability to move lips on the affected side. Newborns with facial nerve paralysis have difficulty effecting a seal around the nipple and consequently exhibit drooling of milk or formula from the paralyzed side of the mouth.

Most facial nerve palsies resolve spontaneously within days, although full recovery may require weeks to months. A persistently open eye should be protected from corneal drying. Electrodiagnostic testing may be necessary if no improvement occurs within seven to 10 days; rarely, surgical intervention is needed.3 Congenital absence or hypoplasia of the depressor anguli oris muscle may simulate facial palsy.

Erupted teeth are present in approximately one of 2,000 newborns.7 Although natal teeth are frequently found in normal infants, they are more often present in newborns with cleft palate. They are also commonly associated with Ellis–van Creveld syndrome, Hallermann-Streiff syndrome, and pachyonychia congenita syndrome. Most erupted teeth, particularly if loose, require removal.

Isolated cleft palate differs genetically from cleft lip. Mild forms of cleft palate include sub-mucosal clefts, pharyngeal incompetence and bifid uvula. Cleft lip, with or without cleft palate, is found in newborns with trisomy 13 syndrome, holoprosencephaly (median cleft lip), and amnion rupture sequence. Newborns with a cleft lip or palate require genetic evaluation and

plastic surgery. Because of feeding difficulties, the mothers of these infants may benefit from lactation consultation and occupational therapy.

EYES

Marked lid edema often results in eversion of the upper lid when force is applied to open the eye. Examination should be postponed until the edema resolves. Subconjunctival hemorrhages, which are common after vaginal delivery, usually do not represent ocular trauma. Conjunctivitis is relatively common in newborns (Table 5).8,9

TABLE 5Conjunctivitis in Newborns

Chemical conjunctivitisUsually occurs within 24 hours of instillation of eye prophylaxis after birthClinical features: mild lid edema with sterile discharge from eyesTreatment: none needed because condition usually resolves within 48 hours after birthGonorrheal conjunctivitisUsually occurs within 24 to 48 hours after birthClinical features: profound lid edema, chemosis, intensely purulent exudates, corneal ulcerationTreatment: for proven penicillin-susceptible organisms, aqueous crystalline penicillin G, 100,000 units per kg per day IV given in four divided doses for 7 days; because of emergence of resistant strains of Neisseria gonorrhoeae, recommended therapy is ceftriaxone (Rocephin), 25 to 50 mg per kg IV or IM (not to exceed 125 mg) given once, or cefotaxime (Claforan), 100 mg per kg IV or IM given once; until discharge is eliminated, frequent eye irrigations with saline; gonorrheal treatment for the mother and her sexual partner(s)Chlamydial conjunctivitisUsually occurs within 7 to 14 days after birthClinical features: watery discharge that later becomes copious and purulent; if untreated, may result in corneal scarring and pannus formationTreatment: orally administered erythromycin, 50 mg per kg per day in four divided doses for 2 weeksHSV conjunctivitisUsually occurs within 2 weeks after birthEyes involved in 5% to 20% of HSV-infected infantsClinical features: infants may present with keratitis, cataracts, chorioretinitis, or optic neuritis; imperative to rule out disseminated herpesTreatment: both topical and systemic antiviral agents, because HSV-infected neonates do not present with isolated conjunctivitis; systemic therapy—acyclovir (Zovirax), 60 mg per kg per day in three divided doses for 14 days if disease is limited to skin, eyes, and mouth; topical therapy—1% trifluridine (Viroptic) or 3% vidarabine (Vira-A); referral to subspecialist

IV = intravenous; IM = intramuscular; HSV = herpes simplex virus.

Information from Meisler DM, Beauchamp GR. Disorders of the conjunctiva. In: Nelson LB, Harley RD, eds. Harley's Pediatric ophthalmology. 4th ed. Philadelphia: Saunders, 1998:199–214, and Pickering LK, ed. 2000 Red book: report of the Committee on Infectious Diseases. 25th ed. Elk Grove Village, Ill.: American Academy of Pediatrics, 2000.

Coloboma (absence or defect of some ocular tissue) may involve the eyelid margin, as in Treacher Collins syndrome, or the iris and retina, as in the CHARGE association (syndrome of coloboma, heart disease, choanal atresia, postnatal growth retardation, genital hypoplasia and ear anomalies). Aniridia (absence of the iris) is usually bilateral and is almost always associated with poor vision and nystagmus. Newborns with aniridia or coloboma should have a formal eye examination.

The red reflex normally shows no dullness or irregularities. A white pupil (cat's eye reflex) denotes an abnormality of the lens, vitreous, or fundus. One of the most common presenting signs of a cataract is a white pupillary reflex. Congenital cataract is present in 0.4 percent of newborns. These infants should be tested for TORCH (toxoplasmosis, other viruses, rubella, cytomegaloviruses, herpes [simplex] viruses) infections. Newborns with monocular congenital or dense cataracts are at risk for developing deprivation amblyopia. Newborns with cataracts should be evaluated by an ophthalmologist.10

Congenital glaucoma, while uncommon, may present at birth. More often, signs of glaucoma develop during the first several weeks or months of life and include corneal cloudiness and enlargement, tearing, blepharospasm, and photophobia. Corneal edema can also occur secondary to the malpositioning of forceps during delivery. Prompt referral to an ophthalmologist is indicated.11

Chest

Although pectus carinatum and pectus excavatum are of concern to parents, these physical anomalies are rarely of clinical significance. Unilateral absence or hypoplasia of the pectoralis major muscle suggests the diagnosis of Poland's syndrome (sometimes called Poland's sequence). Common associated findings in this syndrome include rib defects, hypoplasia of the upper extremities, and syndactyly. Occasionally, more severe limb reduction deformities, hemivertebrae, renal anomalies, and dextrocardia may be present.

Widely spaced nipples, excessive nuchal skin, and lymphedema are findings associated with Turner's syndrome. The evaluation of newborns suspected of having this syndrome should include chromosomal analysis, echocardiography to detect cardiac lesions, and a genetic consultation.

A small thorax suggests pulmonary hypoplasia. A bell-shaped thorax is often present in newborns with neurologic abnormalities or some dwarfing syndromes.

Respiratory and Cardiovascular Systems

Newborns with choanal atresia present with cyanosis that is relieved by crying. The diagnosis is usually established by the inability to pass a catheter through the nostril(s). Unilateral choanal atresia may remain undiagnosed for years. Infants and children with this congenital anomaly may present with mucus or foul-smelling secretions from the affected nares and respiratory distress associated with upper respiratory infection.

Newborns with significant cyanosis should be evaluated expeditiously. Depending on the clinical findings, consultation with a neonatologist may be required. Respiratory disease is more likely in newborns who are tachypneic and using accessory muscles of respiration. Newborns with heart disease generally breathe normally, except for mild tachypnea or hyperpnea. The differential diagnosis and evaluation of cyanosis in infants are presented in Table 6.

The normal heart rate in newborns is 120 to 160 beats per minute. Some term newborns have a resting heart rate below 90 beats per minute. If the heart rate does not increase appropriately with stimulation, serum electrolyte levels should be checked, and an electrocardiogram should be obtained to rule out heart block.

TABLE 6Differential Diagnosis of Cyanosis in Infants

Pulmonary disordersRespiratory distress syndromeAspiration syndromes: blood, meconium, amniotic fluidInfections: pneumoniaPneumothorax, pleural effusionDiaphragmatic herniaPersistent pulmonary hypertension of the newbornChoanal atresiaPierre Robin syndrome*Abdominal distension: elevation ofdiaphragmCardiac disordersFallot's tetrologyTransposition of the great arteriesTricuspid atresiaPulmonary atresia with intact ventricular septumTruncus arteriosusEbstein's anomalyDouble-outlet right ventricleSingle ventricle with pulmonary stenosisTotal anomalous pulmonary venous drainageCoarctation of the aorta†Interrupted aortic arch†Hypoplastic left heart syndrome†OthersCentral nervous system disorders: neuromuscular infections, asphyxia, seizures, hemorrhage,

apneaHematologic disorders: polycythemiaMetabolic and endocrine disorders: hypoglycemia, hypocalcemia, hypermagnesemiaHypothermia

*—Pierre Robin syndrome includes micrognathia, glossoptosis, and cleft of the soft palate; the primary defect is early mandibular hypoplasia.

†—Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome cause systemic hypoperfusion with mild or no cyanosis.

Diminished pulses in all extremities indicate poor cardiac output or peripheral vasoconstriction. Absent or diminished femoral pulses suggest the presence of ductaldependent cardiac lesions (e.g., coarctation of the aorta). Although hypertension is uncommon in newborns, it is rarely idiopathic. An approach to determining the cause of neonatal hypertension is presented in Figure 4.12

Newborn with Hypertension

The rightsholder did not grant rights to reproduce this item in electronic media. For the missing item, see the original print version of this publication.

FIGURE 4.

Palpation and auscultation may reveal a shift in the position of the heart from normal, as occurs in dextrocardia. In newborns, a murmur does not always signify the presence of heart disease, nor does the absence of a murmur provide reassurance of normalcy. Newborns with relatively benign lesions, such as small ventricular septal defects, often have the loudest murmurs, whereas newborns withsevere heart disease may have no murmurs. The most commonly auscultated murmurs in the immediate newborn period are flow murmurs that represent a transition from fetal to neonatal circulation (e.g., tricuspid regurgitation, patent ductus arteriosus). Further evaluation is required if a murmur persists beyond several weeks in a healthy newborn or if a murmur is present in a critically ill infant.

The Newborn Examination: Part II. Emergencies and Common Abnormalities Involving the Abdomen, Pelvis, Extremities, Genitalia, and Spine

MAMTA FULORIA, M.D., and SHELLEY KREITER, M.D., Wake Forest University School of Medicine, Winston-Salem, North Carolina

Am Fam Physician. 2002 Jan 15;65(2):265-271.

Careful examination of the neonate at delivery can detect anomalies, birth injuries, and disorders that may compromise successful adaptation to extrauterine life. A newborn with one anatomic malformation should be evaluated for associated anomalies. If a newborn is found to have an abdominal wall defect, management includes the application of a warm, moist, and sterile dressing over the defect, decompression of the gastrointestinal tract, aggressive fluid resuscitation, antibiotic therapy, and prompt surgical consultation. Hydroceles are managed conservatively, but inguinal hernias require surgical repair. A newborn with developmental hip dysplasia should be evaluated by an orthopedist, and treatment may require use of a Pavlik harness. The presence of ambiguous genitalia is a medical emergency, and pituitary and adrenal integrity must be established. Early diagnosis of spinal lesions is imperative because surgical correction can prevent irreversible neurologic damage.

The newborn examination facilitates the early identification of anomalies and health problems that require immediate intervention. A careful examination is also appropriate after a newborn has completed the transition from fetal to neonatal life. If one anatomic malformation is found, the newborn should be evaluated for associated anomalies. Part II of this two-part article reviews anomalies and disorders of the abdomen, pelvis, extremities, genitalia, and spine.

Abdomen

A scaphoid abdomen suggests the presence of a diaphragmatic hernia. In newborns with abdominal distension, it is important to determine whether the condition is secondary to excess air inside or outside the bowel, fluid in the peritoneal cavity, an enlarged viscus, or a tumor in the abdomen (Table 1).1 A general approach to newborns who have an abdominal mass is provided in Figure 1,2 and approaches to newborns who have hepatomegaly with or without hyperbilirubinemia are presented in Figure 2.3

TABLE 1Differential Diagnosis of Abdominal Masses in Newborns

Renal masses: hydronephrosis (ureteropelvic junction obstruction, posterior urethral valves, vesicoureteric reflux), cystic disease of the kidneys (multicystic dysplastic kidneys, polycystic kidneys), renal vein thrombosis, tumors (Wilms' tumor, mesoblastic nephroma)Gastrointestinal masses: duplication cyst, complicated meconium ileus (intraperitoneal meconium cyst), mesenteric or omental cyst, hypertrophic pyloric stenosisNonrenal retroperitoneal masses: adrenal hemorrhage, tumors (neuroblastoma, teratoma, rhabdomyosarcoma, sacrococcygeal teratoma)Genital masses: hydrometrocolpos, ovarian mass (simple cyst, torsion, teratoma)Hepatobiliary masses: infections (viruses, bacteria), lysosomal storage diseases (glycogen storage diseases), congestive heart failure, tumors (hepatoblastoma), choledochal cyst, hemolytic anemiasSplenomegaly: infections (viruses, spirochetes), congenital hemolytic anemias (hereditary spherocytosis, thalassemia, hemoglobinopathies), storage disorders (Gaucher's disease, Niemann-Pick disease), mucopolysaccharide disorders (Hurler's syndrome)

Adapted with permission from Disease based on age: etiology of neonates (birth to 1 month). In: Kao SC, ed. Pediatric abdominal mass imaging: imaging a child with an abdominal mass. Retrieved October 2001, from: http://www.vh.org/Providers/TeachingFiles/PedAbdomMassImaging/KaosMenu.html.

Newborn with Abdominal Mass

FIGURE 1.

Suggested approach to the diagnosis of abdominal masses in newborns. (US = ultrasonography; CT = computed tomographic; MRI = magnetic resonance imaging)

Adapted with permission from Korones SB. Abdominal masses. In: Korones SB, Bada-Ellzey HS, eds. Neonatal decision making. St. Louis: Mosby-Year Book, 1993:90–1.

Newborn with Hepatomegaly

FIGURE 2.

Suggested approach to the evaluation of newborns who have hepatomegaly with or without hyperbilirubinemia (US = ultrasonography; TORCH =toxoplasmosis, other viruses, rubella, cytomegaloviruses, herpes [simplex] viruses).

Adapted with permission from Wolf AD, Lavine JE. Hepatomegaly in neonates and children. Pediatr Rev 2000;21:303–10.

The umbilicus should be inspected for signs of bleeding, infection, granuloma, or abnormal communication with the intra-abdominal organs. A single umbilical artery is present in 0.2 to 1 percent of newborns4 and may be associated with asymptomatic renal anomalies in 7 percent of these infants.5

Abdominal wall defects, including gastroschisis and omphalocele, are usually diagnosed prenatally. Features and management of these defects are summarized in Table 2.6,7

Anal patency is assessed by inspection or by probing with a small finger. Anterior displacement of the anus should be noted.

TABLE 2Omphalocele and Gastroschisis in Newborns

OmphaloceleClinical features: defect covered by amnion, with cord attachment to apex of defect; prematurity and intrauterine growth retardation less common than in gastroschisisHerniation through defect: any abdominal organ, but usually the large or small intestine, liver, stomach, gall bladder, urinary bladder, pancreas, spleen, or internal genitalia

Associated anomalies in 67% of affected newborns: trisomy 13, 18, or 21 syndrome, congenital heart disease (15% to 25%), gastrointestinal anomalies (midgut volvulus, Meckel's diverticulum, intestinal atresia and duplication, imperforate anus, colonic agenesis), and neurologic and renal anomalies (20%)Overall mortality: ∼30%, related to the presence of major structural and chromosomal anomalies, and to intractable respiratory insufficiency in some newborns with large omphaloceles; with no associated anomalies, minimal mortalityGastroschisisClinical features: no sac covering the defect; defect in abdominal wall positioned to right of umbilicus; cord attachment to abdominal wall to left of defect; prematurity and intrauterine growth retardation more common than in omphaloceleHerniation through defect: usually limited to small intestine and ascending colon, with thickened and matted appearance of intestineAssociated anomalies: primarily intestinal atresiaOverall mortality: ∼10%, mostly from complications of prematurity and intestinal complications such as severe short gut syndromeManagement of defectsGeneral measures for initial stabilization and evaluation: application of warm, fluid-impermeable dressing over defect; placement of orogastric tube to decompress stomach and prevent further distension; aggressive fluid resuscitation to compensate for ongoing fluid losses from exposed viscera; blood culture followed by broad-spectrum antibiotic (ampicillin or gentamicin [Garamycin])Immediate consultation with pediatric surgeon

Information from Nakayama DK. Omphalocele. In: Nakayama DK, Bose CL, Chescheir NC, Valley RD, eds. Critical care of the surgical newborn. Armonk, N.Y.: Futura, 1997:277–88, and Nakayama DK. Gastroschisis. In: DK, Bose CL, Chescheir NC, Valley RD, eds. Critical care of the surgical newborn. Armonk, N.Y.: Futura, 1997:261–76.

Pelvis and Extremities

Excessive traction of the spinal nerve roots C5-T3 results in brachial plexus injury (Table 3).8,9 Treatment, directed at preventing contractures, involves partial immobilization of the affected arm for one to two weeks, followed by active physiotherapy.8

TABLE 3Brachial Plexus Injury in Newborns*

Erb-Duchenne palsyIncidence: most common brachial nerve injury involving spinal nerve roots C5–7Clinical features: arm adducted and internally rotated, with elbow extension, pronation of arm, flexion of wrist, and intact grasp reflex; “waiter's tip” position if spinal nerve root C7 is involvedKlumpke's palsyIncidence: rare (<1% of brachial plexus injuries); involves spinal nerve roots C8-T1Clinical features: hand paralyzed, with no voluntary movements of wrist and an absence of grasp

reflexParalysis of entire armIncidence: more common than Klumpke's paralysisClinical features: entire arm paralyzed and flaccid, with absence of all reflexes

*—The reported incidence of brachial plexus injury ranges from fewer than one case to four cases per 1,000 term births.9

Information from Mangurten HH. Birth injuries. In: Fanaroff AA, Martin RJ, eds. Neonatal-perinatal medicine: diseases of the fetus and infant. 6th ed. St. Louis: Mosby-Year Book, 1997:425–54.

Developmental hip dysplasia may be unilateral or bilateral and includes subluxated or dislocated hips and malformed acetabula. Soft tissue hip clicks may be confused with Ortolani and Barlow clunks. According to guidelines established by the American Academy of Pediatrics,10 an examination that is positive for developmental hip dysplasia should lead to an orthopedic referral. If the results are inconclusive, the examination should be repeated in two weeks. If the follow-up examination is positive or inconclusive, orthopedic referral is indicated. Although triple diapering is common, no data on its effectiveness are available, and use of this measure may delay initiation of appropriate treatment (e.g., Pavlik harness).10

Metatarsus adductus is identified by the C curve of the lateral border of the foot11 (Figure 3). This defect is commonly associated with a fixed intrauterine position and may be associated with developmental hip dysplasia. When the defect is marked and relatively rigid, it cannot be distinguished from talipes equinovarus, a condition characterized by adduction or inversion of the forefoot, inversion at the ankle, and equinus posturing (toes down, heel up, and malrotation of the calcaneus). Referral to an orthopedist is indicated.

FIGURE 3.

Plantar view of bilateral metatarsus adductus, showing rounding of the lateral border of the feet.

Supernumerary digits occur more often in black infants. This anomaly tends to be hereditary and is frequently lateral to the fifth digit on the hands or feet. The extra digits may have a nail and are

attached by a small pedicle, which differentiates the defect from true polydactyly. If bony tissue is not palpable, the application of a ligature around the pedicle allows the digit to fall off.

True polydactyly more commonly occurs on the feet and may be present with malformation syndromes. Syndactyly may involve soft tissue (simple synostosis) or fusion of bone (complex synostosis). Radiographs are necessary to determine the degree of fusion, and affected newborns should be referred to an orthopedic surgeon.

Genitalia

An abnormally small penis (normal values in term newborns: 3.5 ± 0.7 cm in length and 1.1 ± 0.2 cm in diameter) indicates reduced androgen effect or reduced growth hormone action during the second and third trimesters.

Hypospadias (proximally displaced urethral meatus) can vary from a mild glanular form to a more severe perineal form. Chordee (ventral curvature of the penis) without hypospadias occurs less frequently and may be due to skin tethering or a short urethra. Circumcision should be delayed in these newborns. Other anomalies associated with hypospadias include cryptorchidism and inguinal hernia, which are more likely to occur with proximal hypospadias.

The clinical features and management of inguinal hernia and hydrocele are described in Table 4.12,13

TABLE 4Inguinal Hernia and Hydrocele in Newborns

Inguinal herniaIncidence: term newborns, 0.5% to 1%; premature newborns, 5% to 10%; location on right side (∼60%), left side (40%), or both sides (10%), with bilateral hernias more common in premature newborns (∼62% of affected infants)Clinical features: soft, nontender, reducible bulge in the inguinal canal, off the midline, especially at times of increased intra-abdominal pressure, with possible extension into scrotum; when incarcerated, tenderness and tenseness of hernia, with discoloration of overlying skinComplications: incarceration and strangulationTreatment: elective surgical repair as soon as possible after diagnosis13HydroceleClinical features: painless, tense, fluctuant scrotal mass that transilluminates; upper border usually movable away from inguinal canal; possibly, testis not palpableTreatment: none usually needed, because hydroceles generally decrease in size and resolve over the first year of life; if not resolved by the age of 1 to 2 years, consideration of elective surgical repair; for communicating hydrocele (i.e., one that fluctuates in size), same treatment as for inguinal hernia

Information from Nakayama DK. Inguinal hernia and hydrocele. In: Nakayama DK, Bose CL, Chescheir NC, Valley RD, eds. Critical care of the surgical newborn. Armonk, N.Y.: Futura, 1997:289–303.

If a testis is not palpable, it is important to determine if it is retractile, ectopic, or cryptorchid. Cryptorchidism can be unilateral (66 percent of cases) or bilateral (10 percent of cases).14 Cryptorchidism occurs in 2.7 to 5.9 percent of term newborns, but its incidence is 10 times higher in premature infants.14 The scrotum of a neonate with undescended testis is often underdeveloped. The management of infants with this anomaly is described in Figure 4.15

In female newborns, the clitoris can have a relatively prominent appearance, especially if the labia are underdeveloped or the infant is premature. Clitoromegaly may be a sign of masculinization or a virilizing tumor. It may also be caused by increased maternal androgen production or maternal drug use.

Withdrawal of maternal hormones in normal newborns may cause a milky, sometimes bloody secretion from the vagina. The secretion may persist for several days but requires no treatment.

Newborn with Unilateral Undescended Testis

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FIGURE 4.

The presence of ambiguous genitalia is a medical emergency. Adrenal and pituitary integrity must be established.

Spine

Malformations affecting the spine are often diagnosed prenatally or are apparent in the delivery room. These defects require neurosurgical intervention. Occult lesions of the spine may be subtle and asymptomatic at birth. Early diagnosis is imperative because surgical correction can prevent irreversible neurologic damage. When neurologic signs or symptoms become apparent, most are irreversible (Table 5).16

TABLE 5Neurologic Impairment in Newborns

Causes: ischemia (intrapartum or postnatal), cerebral birth trauma (including intracranial hemorrhages), congenital malformations, sepsis or meningitis, prenatal infections, neuromuscular disorders, maternal medications, metabolic disorders, degenerative diseasesClinical features of neurologic impairment in newborns: hypotonia (less frequently, hypertonia), weakness (decreased strength), asymmetry of muscle tone and/or movement, alterations in level of consciousness, seizures, single or multiple cranial nerve involvement, fasciculations

Adapted with permission from Vannucci RC, Yager JY. Newborn neurologic assessment. In: Fanaroff AA, Martin RJ, eds. Neonatal-perinatal medicine: diseases of the fetus and infant. 6th ed. St. Louis: Mosby-Year Book, 1997:812–26.

Overlying cutaneous markers are found in 50 to 90 percent of newborns with spinal malformation and may be the only indication of a tethered cord.17 Cutaneous manifestations associated with occult spinal lesions include hypertrichosis, lipomas and lipomyelomeningocele, large hemangiomas overlapping the midline, and large dimples above the gluteal crease and anal verge. Healthy newborns often have smaller dimples within the gluteal crease. Dimples should never be probed and should be evaluated with magnetic resonance imaging before neurosurgical intervention.17