Obtaining the History

Table 4–1 lists the important issues to ask about when obtaining any antenatal history.

TABLE 4–1 Significant issues to ask about when taking the History for a Newborn

Approach to Physical Examinations of the Newborn: When, Why, and How

Clinical Observations and What They Mean

Encourage the parents to participate as much as possible in the examination by undressing the baby, holding the baby on the lap or the bed, and providing a stabilizing finger for the baby to grasp (Fig. 4–1). The first part of the examination is the most important. Do not touch the baby except to remove all clothing gently. You may wish to leave the diaper on until you are ready to examine the lower portion of the baby. The baby should be undressed, warm, and well illuminated and should be helped to feel stable and secure on the examining surface. Improving the baby’s stability and relaxation by letting him or her grasp the parent’s or your finger allows an immediate appreciation of the strength of the baby’s reflex grasp and reduces the tendency for instinctive startle reflexes that occur when the baby feels unstable and rolls on the examining surface.

FIGURE 4–1 The newborn feels more stable and tends to relax if you allow the infant to hold your hand during the examination.

The ideal time to examine a newborn is a couple of hours after a feeding, when the baby may not be too deeply asleep, as babies often are just after a feeding, nor awake and screaming, as they often are just before a feeding. Stand back and take a long hard look at the infant; educated observation often reveals far more than touching, poking, and kneading. While observing the newborn, answer the following questions:

FIGURE 4–2 Cutis marmorata (“marble skin”) can occur as a normal phenomenon when the baby is exposed.

Look for hematomas, hemangiomas, ecchymoses, and petechiae. The last can be associated with increased intravascular pressure during delivery, thrombocytopenia from the presence of platelet antibodies, or congenital infections. Cutaneous hemangiomas are often absent or minimally apparent at birth but develop and grow during the first weeks or months of life, only to regress spontaneously later. Ecchymoses may indicate more than usual trauma or an underlying coagulation disorder.

You can perform much of the newborn’s neurologic examination without touching the baby. Do all four extremities move equally and maintain a general posture of flexion, with alternating flexion and extension movements? The eyes should move if they are open, and the baby may exhibit sucking and tongue movements, yawning, facial grimacing, and spontaneous startle responses. The four most important parts of the neurologic assessment are:

A baby’s level of alertness varies with the time of day and the time of last feeding; normal newborns spend about 20 out of 24 hours asleep. Visual alertness is temporarily limited if erythromycin ointment has been instilled in the eyes as prophylaxis for gonococcal ophthalmia.

Listening To the Cry

Babies normally cry when they are uncomfortable, disturbed, or hungry. Train yourself to listen carefully to infant cries, because there is much to be learned from them. The normal cry should be strong; hoarseness, weakness, or an unusually high-pitched or low-pitched cry may indicate laryngeal or neurologic abnormalities. Repetitive inconsolable crying also is abnormal. An experienced nurse or mother can quickly tell you whether a particular baby’s cry is normal. Sometimes the nurse or mother is the first to suspect a disorder simply on the basis of an unusual cry, such as the high-pitched “cerebral” cry; the low throaty cry of congenital hypothyroidism; the characteristic catlike cry of the cri du chat syndrome; or the weak, poorly sustained cry of the infant who is sick.

Muscle Tone

By carefully examining many babies, you will become familiar with the differences between normal, increased, and diminished muscle tone in newborns. The differences cannot be described in words. Only by making it a regular practice to flex and extend babies’ arms and legs repeatedly during every examination of newborns can you develop an instinctive “feel” for normal, increased, and decreased muscle tone. When a newborn baby is pulled to the sitting position from the supine, the head lags behind the trunk; a healthy full-term baby makes some effort to bring the head in line with the chest. Once lifted to a sitting position, a full-term infant can keep the head upright for several seconds.

Primitive Reflexes

Many so-called primitive reflexes can be elicited that may already have been observed during the earlier part of the examination.

Moro reflex

Newborns often demonstrate the Moro, startle, or embrace reflex spontaneously when they are suddenly moved, exposed to a sudden loud noise, given the feeling of falling, or feel unstable on a flat surface. You can most reliably elicit this reflex by allowing the infant’s head to drop (while supporting it gently) below the level of the rest of the body while the baby is in a reclining position. The baby extends the arms suddenly and rapidly with the hands open, then brings them back together more slowly in a movement that looks like an embrace. The initial rapid movement may be accompanied by a grimace or cry (Fig. 4–3). Symmetry of movement is important. Weakness of one arm (e.g., in an infant with brachial plexus injury) results in an asymmetric Moro reflex.

FIGURE 4–3 Induce the Moro or “embrace” reflex by giving the infant the feeling of falling. The response begins with a sudden extension of the arms and legs (A), which is followed by a slower embracing movement in which the arms are brought together (B). The Moro reflex is sometimes accompanied by a cry.

Palmar grasp

Find the palmar grasp by placing your index fingers in each of the baby’s open hands; the baby’s fingers should close around your fingers with strength enough to lift the baby’s body part of the way off the bed or table (Fig. 4–4).

FIGURE 4–4 In the newborn, the prehensile grasp of the fingers is often strong enough to support the baby’s weight.

Plantar grasp

A strong plantar grasp usually can be demonstrated if you place your thumb on the sole of the baby’s foot in the space under the toes (Fig. 4–5).

FIGURE 4–5 The plantar grasp typically is strongest in the newborn period.

Weighing and Measuring

For the physician’s and the parents’ records, it is important to (1) measure the baby’s head circumference, length, and weight accurately and (2) assess the nutritional status. Measure the head circumference, preferably with a disposable tape measure, around the largest occipital-frontal diameter across the forehead, just above the eyes, and over the most prominent part of the occiput (Fig. 4–6). Head circumference normally measures 33 to 37 cm in a full-term infant. If a baby’s head circumference measures slightly above or below the normal for age, check the parents’ head circumferences before “pushing the panic button.” Benign familial megalencephaly, a normal variant, is the most common cause of a larger than average head. The condition can be verified by checking the head circumference of both parents. Megalencephaly is usually handed down by the father.

FIGURE 4–6 Measuring the head circumference of an infant.

Although chest circumference is not measured routinely in a newborn, it is a good indicator of body proportion if there is doubt. Chest circumference normally measures 30 to 37 cm and is usually 1 to 2 cm smaller than the head circumference during the first 6 months of life. It is measured around the nipple line with the baby lying supine.

Measuring length is important, and it must be done accurately. Measuring length with a tape measure or by making pencil marks on a piece of paper underneath the baby is notoriously inaccurate. Accurate length measurement is best accomplished by using one of the commercially available fixed measuring devices, with the baby lying supine and the head touching a fixed object (Fig. 4–7). Extend the baby’s body and legs and hold them flat; record the resulting length, which is normally 47 to 55 cm. Plot the weight, length, and head circumference on a sex-appropriate fetal growth chart (Fig. 4–8) to see whether the baby is (1) within the normal range for gestational age and (2) proportional in terms of head circumference, length, and weight.

FIGURE 4–7 Measuring the length of an infant. A stable accurate measuring device and proper positioning are essential. Note that many infants do not relish this procedure. Leave it to the end of the examination.

FIGURE 4–8 Growth charts for the newborn male (in Nova Scotia). Measurements are related to gestational age.

(From Lubchenco LO, Hansman M, Dressler M, Boyd E: Intrauterine growth as estimated from liveborn birth weight data at 24 to 42 weeks of gestation. Pediatrics, Vol. 32, p. 794, Figure 1, Copyright 1963.)

If there is doubt about a baby’s upper and lower segment proportions, remember that the newborn’s midpoint is normally at about the umbilicus. The ratio of crown-to-pubis length to pubis-to-heel length in the newborn is normally 1.7:1. Making these measurements may help if a short-limbed growth disorder, such as chondrodystrophy, is suspected.

The average healthy full-term North American baby weighs approximately 3500 g. The range of normal variation is defined in either percentiles or standard deviations from the mean on the growth charts. Assess the baby’s nutrition from its growth in relation to gestational age (which may be deficient in weight alone or in all three measurements) and determine whether there is wasting of tissues. Wasting may be most obvious over the anterior thighs, where the quadriceps bulk and subcutaneous fat are most easily assessed. Babies with moderate to severe wasting of the subcutaneous and muscular tissues or those whose body weight is more than two standard deviations below the mean for gestational age may have significant problems that should be evaluated during the newborn period. Such problems are congenital malformations and metabolic disturbances, such as hypoglycemia and hypocalcemia. You should follow the future growth and development of such infants closely.

Assessing Gestational Age

The physical examination can help you determine whether a baby is truly full-term (37 weeks’ gestation or more) or preterm (premature, less than 37 weeks’ gestation).

The full-term baby has deep creases crisscrossing the sole of the foot, from the ball to the heel (Fig. 4–9). The preterm baby does not have these creases.

FIGURE 4–9 A, Typical sole creases of a full-term infant. B, Comparatively smooth sole of a premature infant.

The preterm baby’s ear has fewer folds and is more pliable than the springy, cartilaginous, well-formed ear of the full-term infant (Fig. 4–10).

FIGURE 4–10 A, The springy cartilaginous ear of the full-term baby. B, The softer, less well-formed ear of the premature infant.

In the full-term male infant, the scrotum is full, rugated, and pendulous, with the testes fully descended; in the preterm baby, the scrotum is smaller and smoother, and the testes are either high in the scrotum or in the inguinal canal (Fig. 4–11). The testes are usually palpable in the upper scrotum by 36 weeks’ gestation and are fully descended by 40 weeks.

FIGURE 4–11 A, The well-formed rugated scrotum of the full-term male infant. B, The smoother immature scrotal surface in the premature infant. In the preterm infant, the testes are often highly placed or located in the inguinal canal.

The preterm female infant has relatively prominent labia minora and small labia majora, whereas in a full-term girl, the labia majora fully cover the vaginal opening and obscure the labia minora (Fig. 4–12).

FIGURE 4–12 A, The typical prominent labia majora of the full-term female infant. B, The premature female genitalia. The labia majora are less prominent and the labia minora more prominent than in the full-term infant.

The preterm infant’s scalp hair is fine and woolly, like fluffed-up cotton wool; the full-term baby has straight silky hair, and each strand is separate.

In the well-nourished full-term baby, the breast nodule under the areola is approximately half a centimeter in diameter, whereas in the preterm infant, it measures 3 mm or less. This is an unreliable sign for gestational age, however, because undernourished babies may have little or no breast tissue even at full term.

More detailed systems exist for evaluating and scoring the gestational age of infants, the most popular of which was described by Dubowitz in 1970 and refined by Ballard and associates in 1991. The Dubowitz/Ballard Examination for Gestational Age is a useful tool for which considerable practice and experience are required to achieve accuracy. The scale involves assessing six neurologic and seven physical criteria on a numerical scale and calculating a total score. That score is then matched to a table giving approximate gestational age. The physical criteria, including those already described, are more accurate than the neurologic criteria, because the neurologic score is falsely low in a sick or neurologically compromised infant, as well as in many preterm infants. (See http://www.chw.org/display/PPF/DocID/23273/router.asp#3273.)

The Head

Newborns’ heads vary considerably in shape and symmetry, depending on intrauterine position and pressures, presentation at delivery, and the amount of molding that has taken place during labor and delivery. A baby born by breech delivery or cesarean section characteristically has a fairly round, symmetric head, whereas the head of a baby born by vaginal vertex delivery is usually elongated occipitally, with some overriding (overlapping) of the sutures and possibly a caput succedaneum (Fig. 4–13) or a cephalhematoma. A caput succedaneum is a collection of subcutaneous edema fluid caused by constricting pressure during passage through the birth canal; it normally resolves within the first few days of life. A cephalhematoma is a subperiosteal collection of blood limited by the periosteal attachments to the area over a single bone of the skull. Soft and fluctuating, it feels like a fluid-filled cyst, and it may last for several weeks, gradually getting smaller. During its resolution, a cephalhematoma usually calcifies initially at the edges, giving the impression on palpation of depression of the skull in the center with an eggshell-like bony margin, raising fears of skull fracture. In general, the baby’s skull is smooth without any obvious depressed areas. Depressed fractures are rare but can occur.

FIGURE 4–13 Caput succedaneum. The subcutaneous edema was caused by the pressure of the passage through the birth canal.

(From Zitelli BJ, Davis HW: Atlas of pediatric physical diagnosis, 5th ed. Philadelphia, Mosby, 2007.)

The normal size of the diamond-shaped anterior fontanel varies considerably; it usually admits at least one fingertip but often admits two fingers or more. The anterior fontanel should be flat or slightly sunken when the baby is held in the upright position and is quiet. The posterior fontanel often barely admits one fingertip and may be difficult to appreciate in the first few days because of the overlapping sutures.

The eyes

Examination of a newborn baby’s eyes may seem difficult at first, but as with other aspects of the examination, it is surprising how much you can learn without touching the infant. First, establish that both eyes are of normal size with normal-appearing corneas, pupils, and sclera. Make sure that red reflexes are present bilaterally and that there are no anterior chamber hemorrhages, visible cataracts, or other malformations of the lens or iris. The main ingredient required for success in this examination is patience. See Chapter 8 for details.

Small subconjunctival scleral hemorrhages, which are seen commonly in newborns (Fig. 4–14), are caused by increased intravascular pressure during delivery. They are unsightly but harmless and usually disappear in a few days. If you do find some hemorrhages, reassure the parents immediately.

FIGURE 4–14 Scleral subconjunctival hemorrhage, which is a common, transient, and harmless phenomenon in newborns.

Getting a good look at a newborn’s eyes is not always easy, but several useful tricks can make it less frustrating for all concerned. Babies open their eyes in a darkened or dimly lit room more readily than in brightly lit surroundings. In the quiet alert state, they often open their eyes spontaneously. Truly quiet and alert babies may fix their gaze on you, looking at you rather than through you (see Chapter 8). You can establish that the baby will follow your face through an arc of at least 90 degrees. This finding, coupled with the presence of bilateral red reflexes, gives good first-line reassurance about the baby’s vision.

Although it sometimes is possible to separate the baby’s eyelids with your fingers, this practice is not recommended. In the first place, during the first few hours of life, the eyelids are often covered with slippery vernix, making it no easy task to get a grip. Second, this approach often makes babies cry and try to close their eyes even more tightly. If it is impossible to catch the baby in the quiet alert state, try taking advantage of the vestibular reflex as a means of getting an infant to open his or her eyes. Pick the baby up, supporting the head with a hand, and hold the baby upright with the face at your eye level; then slowly rock the baby back and forth, toward and away from you (Fig. 4–15). If the baby is quiet and not crying, the eyes usually open for a few moments at least, letting you check the red reflexes and pupillary responses. Do not be surprised if the baby appears to have a strabismus (i.e., to be “cross-eyed”), because conjugate movement of the eyes in young infants is only intermittent.

FIGURE 4–15 A, Using the vestibular reflex to induce a newborn to open the eyes. B, Gentle rocking back and forth often produces the desired result.

Ophthalmoscopy is not performed routinely in newborns except when there are specific concerns about the eyes, such as in those who may be subject to retinopathy of prematurity and infants with congenital infections such as toxoplasmosis, rubella, and cytomegalovirus. Ophthalmoscopy generally is performed by ophthalmologists after dilation of the baby’s pupils.

The mouth

If the baby happens to cry during the examination, seize this opportunity to examine the mouth. Check whether the palate is intact. Although in many babies the tongue appears to be tethered to the bottom of the mouth by a frenulum that sometimes reaches the tip of the tongue (“tongue tie”), it is always mobile enough to allow the baby to suck and to establish breast-feeding, which are all that is necessary at this age (Fig. 4–16). Cutting the tongue frenulum used to be a common practice but is no longer considered a useful or acceptable procedure. True tongue tie is exceptionally rare, if it exists at all.

FIGURE 4–16 A prominent tight frenulum of the tongue, mistakenly referred to as “tongue tie.” These normal variants cause no problem and should be left alone.

Note the uvula’s configuration. A bifid uvula may be the only sign of a submucous (invisible) cleft of the palate.

Check for the presence of prematurely erupted teeth. Whitish epidermal inclusion cysts occasionally are seen along the gums or the palate. They are harmless and disappear after a while.

Stroke the face beside the baby’s mouth with your finger to elicit the rooting reflex, in which the baby turns the head toward the finger and opens the mouth as if to grasp a nipple (Fig. 4–17). By putting a finger in the baby’s mouth, you can elicit the suck reflex and check the palate. It is unnecessary to test for the gag reflex unless there are specific concerns about neurologic function. When the baby cries, note whether the mouth and face are symmetric. Asymmetric crying may be the one and only tip-off to a unilateral facial palsy that is not apparent when the baby is quiet. In a baby with unilateral facial palsy, the affected side does not move as well as the other side, the nasolabial fold remains flat, and the corner of the mouth droops (Fig. 4–18). Facial palsy often is associated with compression of the facial nerve during delivery (i.e., by forceps). The majority of facial palsies resolve without permanent damage.

FIGURE 4–17 Eliciting the rooting reflex. Stroking the infant’s face near the mouth causes the baby to open the mouth and turn toward the stimulus. Breast-feeding mothers often use this reflex to their advantage when initiating nursing.

FIGURE 4–18 Asymmetric crying is caused by a right-sided facial paralysis. Milder degrees of unilateral facial paralysis may be demonstrable only when the baby is made to cry.

Some babies have some mucus or saliva drooling from the mouth, and as a result the bedding under the head is frequently wet. In the first few hours of life this phenomenon may be normal if the baby has swallowed much amniotic fluid and is regurgitating stomach contents. However, it also may signify an inability to swallow properly either because of neuromuscular problems or an esophageal obstruction, as with esophageal atresia. Isolated neuromuscular swallowing difficulties are uncommon and would become evident as abnormal neurologic findings in other tests of the cranial nerves. Suspect an esophageal obstruction if: (1) there is excessive mucus and drooling and (2) a soft plastic nasogastric tube inserted into the mouth and throat fails to reach the stomach.

You can learn the tube insertion procedure from an experienced nurse. In infants with esophageal obstruction or atresia, a nasogastric tube may appear to have gone in far enough to have reached the stomach, but in fact, it may be curled up on itself in the blind-ended pouch. To ensure that the tube is in the stomach, aspirate from the tube and test the secretions for pH. If they are from the stomach, the pH should be acid. You also can inject air into the tube and listen for bubbling sounds over the stomach with a stethoscope. This second method is less reliable, because sound can be transmitted well within the chest and abdomen. If there is still any doubt that the tube has reached the stomach, a radiograph of the chest and abdomen will decide the issue. The association of esophageal atresia with tracheoesophageal fistula is extremely high; therefore, if atresia is found, assume a fistula is present. At this stage, consult with a pediatric surgeon and radiologist.

The Neck

Examine the baby’s neck for fibroma of the sternomastoid muscle (i.e., a fibrous sternomastoid tumor). This tumor often is misdiagnosed as a hematoma and may be associated with facial asymmetry and a head tilt due to an associated shortened hypotrophic sternomastoid muscle. More rarely, there may be a fistula representing a remnant of the branchial arch system, opening anywhere from the ear down along the anterior border of the sternomastoid. Inspect and feel the thyroid area to make sure there is no thyroid enlargement, especially if the mother has taken iodides during pregnancy or there is a family history of thyroid disease.

FIGURE 4–19 The proper way to pick the baby up, always supporting the head.

Routinely palpate the clavicles, which are the most common sites of fracture during delivery. Unusually large or macrosomic infants are at increased risk for clavicular fractures, which may manifest as pseudoparalysis of one arm. The baby can move the arm but does not do so because movement causes pain. Palpation over the clavicle may reveal crepitus in the first few days. Soon after, a sizable lump of callus forms at the fracture site; it will gradually disappear over many months. No treatment is necessary.

The Chest

The newborn’s respirations are normally irregular in both amplitude and frequency, with pauses that should last less than 10 seconds. This irregular breathing pattern is even more marked in preterm infants. The respiratory rate averages 30 to 40 breaths per minute in a resting, full-term baby. Breath sounds should be heard well in the front and the back and, although a few crackles may be heard immediately after birth, no significant crackles or wheezes should be heard within a few hours. Signs of respiratory distress, such as marked subcostal, intercostal, or suprasternal retractions, should not be evident.

While the baby is quiet, listen to the heart. The heart rate is usually 120 to 130 beats per minute, with a normal range of 100 to 160 beats per minute. Occasional extrasystoles are common. The two heart sounds are usually equal in intensity. The normal variation in the width of the split in the second sound with respiration may be difficult to appreciate because the respiratory and heart rates are so rapid. During the first few days, it is common to hear a soft precordial systolic murmur. If this murmur is not associated with other signs of congenital heart disease, such as cyanosis, differential limb blood pressures/pulses, or respiratory distress, and disappears in a day or two, it probably was due to flow through the ductus arteriosus, which remains patent immediately after birth, closing gradually over subsequent hours or days.

Feel the peripheral pulses. Always palpate the femoral region to be certain that femoral pulses are present, are equal bilaterally, are equal in strength to the brachial pulses, and are of normal volume. If the pulses are present at the initial examination, do not assume that they are still there at the next examination; recheck the femoral pulses at each examination of the baby for the first year. Failure to check and recheck the femoral pulses in the newborn is a capital crime. The arteries are found at the lateral side of the femoral triangle just below the inguinal ligament (Fig. 4–20). Make sure that you have really felt the femoral pulsations. If you only think you have felt them, you have not actually felt them. Absence or weakness of femoral pulsations indicates possible aortic coarctation and warrants an urgent cardiology consultation. Provide a record of four-limb blood pressure measurements to the cardiologist for the examination. Adequate peripheral perfusion manifests as warm pink extremities with good capillary refill.

FIGURE 4–20 Palpating for a femoral pulse. Lay your examining finger along the course of the inguinal ligament and just below it. Gentle pressure with the fingertip should elicit the pulsation. (If you are not sure, you have not felt it.)

Some newborns have hypertrophy of glandular breast tissue. This condition is caused by maternal hormonal stimulation in utero, and the breasts may continue to enlarge during the first few days of life. Newborns may even secrete milk from the nipples (sometimes referred to as “witch’s milk”). Never treat or manipulate engorged breasts. Spontaneous regression of breast engorgement is the rule.

The Abdomen

The normal newborn’s abdomen looks slightly protuberant, and a separation frequently is felt between the two rectus muscles (diastasis recti). Do not try to palpate the abdomen until the baby is relaxed and quiet. Gentle, steady pressure with warm hands is the most effective means of getting the baby to relax the abdominal muscles.

In most babies, the soft, poorly defined liver edge is palpable in the right upper quadrant. Applying your thumb or fingers gently to the skin surface, you should feel a resistance that falls away as your fingers move downward. The liver edge is normally felt 1 to 2 cm below the right costal margin in the right nipple line. In newborns, it may be palpable right across the upper abdomen, sloping upward to the mid-left costal margin. Inability to palpate the liver edge may suggest diaphragmatic paralysis or hernia, especially if the finding is associated with respiratory distress. The spleen may or may not be palpable in the newborn. When palpable, it should be felt just below the left costal margin. The spleen, too, is soft and may be difficult to feel.

Abdominal palpation should include a search for unusual masses and for renal size. The firm, rounded left kidney usually can be felt fairly easily. The lower pole of the right kidney also can be relatively easy to palpate below the liver. Normally no other masses are felt in the abdomen at this age except for a full bladder.

The umbilical cord may be in varying states of dryness, depending on the baby’s nutritional state and age at the time of examination. The cord contains a jelly (Wharton jelly) in which three vessels are normally embedded—two umbilical arteries and one umbilical vein—that spiral down the umbilical cord to the placenta. If there is only 3 or 4 cm of cord below a clamp, it can be difficult to determine how many vessels are present from looking at the crushed end of the cord. Approximately 1% of babies have only a single umbilical artery; 10% of these infants have other congenital malformations. As a solitary finding, a single umbilical artery does not call for extensive investigation beyond a thorough physical examination and a notation on the chart and office record to maintain awareness of the possibility of internal malformations if problems arise. In a baby with intrauterine growth restriction, the cord is often thin and stringy with little Wharton jelly. In a baby who has been bathed in meconium in utero for more than a few hours, the cord may be stained green.

Always inspect the anus to be sure that it is patent. Anal patency is assured if the baby has already passed meconium and the anus looks normal. Passage of meconium alone is not sufficient to assume patency without a close examination of the anus because rectal fistulas may allow defecation while anal atresia exists. Digital rectal examination normally is not performed unless there is good reason to suspect an internal anomaly. On the rare occasion that it is required, use your fifth finger, well lubricated, and proceed as slowly and gently as possible. Gentle pressure against the anal orifice usually induces relaxation within a minute or so, allowing the finger to be inserted with less trauma.

The Genitalia

Examine the genitalia carefully to help estimate gestational age and to ascertain normal anatomy. The female newborn has relatively large labia majora that cover and occlude the labia minora and vaginal introitus. The vaginal opening usually is largely occluded by the hymenal membrane. Vaginal discharge often is present, especially on the second and third days of life, when there also may be some minor bleeding, resulting from withdrawal of maternal progesterone stimulation. The clitoris is easily seen, but it should not be so large as to appear phallic. Frequently there are small tags of tissue near the introitus. Palpate the labia majora carefully to exclude the presence of gonads that, if located there, may indicate sexual ambiguity or, more rarely, herniation of the ovaries into the labia.

In male infants, the glans penis normally is covered completely by foreskin that cannot and should not be fully retracted. Retracting it slightly allows you to see whether the opening in the prepuce is adequate for urination. It may or may not be possible to see the urethral meatus, which should be slit-like and located at the tip of the glans. If the baby voids during the examination; you can note the quality and strength of the stream. The scrotum of the full-term boy is pendulous and well rugated, and it may be more pigmented than the rest of the skin in dark-skinned babies. The testes should be completely descended. The normal testis is 1 to 2 cm long, the size and consistency of a small seedless grape, and about 1 mL in volume. Remember that if your hand is cold or the baby is unusually irritable, the cremasteric reflexes may quickly retract the testes to the top of the scrotum or even into the inguinal canals. The scrotum is best examined in a quiet baby and with a warm hand. Sliding one hand medially along the inguinal ligament toward the top of the scrotum before touching the scrotum blocks the escape route of the testis in an infant who has a very active cremasteric reflex.

Many developmental variations and anomalies can involve the external genitalia, the only parts of the reproductive system available for immediate examination. These variations and anomalies also may involve the internal sexual organs, having serious implications for the health of the child and future reproductive capability. In addition, abnormalities of the external genitalia may be linked with anomalies of the renal system. One of the most common anomalies of the male genital system is hypospadias, a ventral displacement of the urethra on the meatus or shaft of the penis. It can be of varying severity: in primary hypospadias, the urethra is still on the glans; in secondary hypospadias, the urethra is at the junction of the glans and the shaft of the penis; and in tertiary hypospadias, the urethra is somewhere on the shaft of the penis. Primary hypospadias is generally isolated, but more severe manifestations may be associated with renal anomalies, requiring renal ultrasonography and consultation with a pediatric urologist. Babies with hypospadias should not be circumcised because the foreskin may be needed for later surgical repair.

Immediately after birth, evaluate any infant with apparently ambiguous or abnormal genitalia. Potentially life-threatening adrenal insufficiency is associated with some forms of ambiguous genitalia. One abnormality that is frequently found in an apparent female infant is a large phallus with hypospadias. The labia may or may not be fused, and it may be possible to feel gonads in what appear to be labial folds. Conversely, the infant may seem to be a male with an unusually small phallus, undescended or nonpalpable testes, and a small scrotum. Many variations are possible, including hypospadias with or without cryptorchidism (undescended testes). It is important to find out whether similar problems exist within the family, because some of these problems are hormonally determined or chromosomally inherited.

Neonates presenting with ambiguous genitalia are both a medical and social emergency. It is important to identify infants with potentially life-threatening adrenal insufficiency so they can be treated promptly and to diagnose other potentially treatable conditions, such as Smith-Lemli-Opitz syndrome. Also, the parents will wish to know the sex of their child as soon as the infant is born. It may be best to tell them initially that their infant’s genitalia are not completely developed and that special tests, performed as quickly as possible, will determine the sex that is the most appropriate for rearing the child. It also is helpful to review with the parents the features of their newborn that are within the normal range. Definitive sex assignment is a complex process, and involvement of several specialists will be required.

Investigations for ambiguous genitalia may include chromosome analysis, urine and blood hormone analyses, and internal examination by ultrasonography or radiography with contrast enhancement. Often, consultations with an experienced pediatrician or neonatologist, endocrinologist, geneticist, and pediatric urologist are needed to help make an accurate diagnosis. (See Chapters 5 and 16 for detailed discussions of this issue.)

Hernias And Hydroceles

Hydroceles are common in newborn boys (see Chapter 12). An isolated hydrocele without hernia usually disappears within weeks or months and rarely requires repair. If you find a hernia, make sure that it is easily reducible; if not, consult a surgeon immediately, because early repair may be required. Hernias in girls are rare and always call for careful palpation for aberrant gonads and for exclusion of sexual ambiguity before and during surgical exploration.

The Hips

Do not assume that the hips are not dislocated or subluxable in a baby who kicks the legs vigorously. Congenital dislocation of the hip occurs in approximately 1 in 500 to 1 in 1000 babies. If diagnosed early, the condition is treatable with good results (Fig. 4–21).

FIGURE 4–21 A and B, Proper technique for examining the newborn for congenital subluxation or dislocation of the hip.

With the baby relaxed and supine on a firm surface, flex the thighs to a right angle to the abdomen and the knees to a right angle with the thighs. Then, grasp each thigh with your forefinger along the outside of the shaft of the femur, your middle fingertip on the greater trochanter, and your thumb medially located. With the baby at rest, first adduct the femora fully and push down toward the bed. If either femoral head is felt to leave the acetabulum posteriorly, it has dislocated (this procedure is known as the Barlow maneuver).

Then gently abduct each leg from the position of full adduction so that the knees come to lie laterally on the mattress. During abduction, push the greater trochanters medially and forward with your fingers. If you feel (or hear) a click during either adduction or abduction, if there is resistance as the knee approaches full abduction, or if there is a spasm or discomfort of the adductor muscles of the femur, the baby probably has a congenitally dislocated or subluxable hip and needs orthopedic assessment. (This procedure is known as the Ortolani test.)

The Extremities

Now move your hands down over the baby’s legs to judge symmetry and equality of length, quickly checking the number of toes and for the presence or absence of syndactyly on each foot. Slight syndactyly of the second and third toes is a common minor congenital anomaly without special significance (Fig. 4–22). If you have not already looked at the creases of the soles of the feet to assess gestational age, now is a good time to do so. Most normal newborns have slight bowing of the legs, reflecting intrauterine position. This bowing disappears gradually as the infant gets older. Often, if the baby’s legs are “folded up” accordion style, gentle pressure on the soles of the feet induces the baby to resume the intrauterine posture, allowing a greater appreciation of how the legs became bowed.

FIGURE 4–22 Partial syndactyly of the second and third toes is a common minor anomaly in otherwise healthy infants.

Differentiate true clubfoot, a fixed deformity, from apparent but pliable and transient foot deformations caused by in utero positioning. The latter can be straightened out easily with gentle pressure from the fingers to bring the feet into normal position and alignment. These transient abnormalities become less obvious during the first weeks and months of life. The deformities of clubfoot, however, are not completely correctable by hand pressure and require orthopedic management as early as possible. They may or may not be associated with neurologic problems.

Rudimentary skin tags at the lateral border of either the fifth finger or the fifth toe usually represent rudimentary supernumerary digits (i.e., polydactyly), which may be a signpost for associated malformations or syndromes. Many well-intentioned physicians tie these tags off with a bit of silk suture for cosmetic reasons, but the evidence should not be destroyed until its significance has been determined. Check the nails on the fingers and toes; extra-long nails are common in post-term infants, and hypoplastic nails are part of many dysmorphic syndromes, such as Williams syndrome and fetal alcohol syndrome (FAS).

The Back

Now, turn the baby over and examine the back. Check the creases at the thigh-buttock area for symmetry. Asymmetry may reveal early signs of leg shortening associated with congenital dislocation of the hip. Examine the midline of the back particularly carefully, because midline congenital defects on the dorsal surface may signal important internal anomalies. Starting at the lower end, look at the top of the cleft between the buttocks at the base of the spine. Many babies have a pilonidal dimple in this area (Fig. 4–23) that will disappear and has no special significance. If there seems to be no bottom to the dimple or if it appears to be a sinus tract, further investigation (with ultrasonography) should be initiated, because the tract may communicate with the spinal canal and be associated with other malformations. Any hemangioma, lipoma, or tuft of hair that crosses the midline of the lower back carries a high probability of being associated with an internal structural spinal abnormality, such as spina bifida occulta or tethering of the spinal cord by a bony spicule or fibrous band (diastematomyelia). Run a finger up and down the spine, noting lumps or gaps between the spines or gaps where there should be spines, which could indicate spina bifida or lipomeningocele. Continue the examination right up to the base of the neck and the occiput, looking for defects. Neural tube defects may be small, but they are always in the midline. Frequently there is a small, flat area hemangioma at the nape of the neck, popularly known as “stork bite,” which is insignificant; it will become less obvious as the infant gets older, either by disappearing or by being covered by hair.

FIGURE 4–23 A pilonidal dimple, which is frequently present in normal newborns. Most are shallow blind tracts that disappear in a few months.

Skin of the Newborn

Pigmented and depigmented lesions

Patches of unusual pigmentation may be normal or abnormal. More than five or six patches of brownish pigmentation (known as café au lait spots) suggest the possibility of congenital neurofibromatosis; check both parents for the presence of similar lesions.

It is common to find one or more large deep bluish lesions over the buttocks or lower spine in dark-skinned, dark-haired infants. These lesions are called mongolian spots. They occur in most Asian infants, in more than 90% of black infants, in most East Indian infants, and in many dark-skinned white infants. Do not confuse this pigmentation with bruising. Occasionally, when such confusion has occurred, parents have been wrongly suspected of child abuse.

Areas of depigmentation may be significant because they may be the earliest and, for a time, the only manifestations of tuberous sclerosis, a progressive degenerative neurologic disease. The typical lesions often occur in the shape of an ash leaf (Fig. 4–24) and may occur singly or in multiples. Their appearance is intensified by examination under ultraviolet illumination (a Woods lamp).

FIGURE 4–24 Typical “ash leaf” depigmented lesion. Such a lesion often is the first and, for some time, the only sign of tuberous sclerosis in a newborn infant.

(From Kliegman RM, Behrman RE, Jenson HB, et al: Nelson textbook of pediatrics, 18th ed. Philadelphia, Saunders, 2007.)

Small, slightly elevated hemangiomas, called strawberry hemangiomas, typically enlarge as the infant grows but are not associated with deeper problems. They may be unsightly because they tend to grow considerably during the first few months of life, and they may be a nuisance, but most are insignificant and will resolve over a few years. Strawberry hemangiomas require treatment only occasionally, such as when they overlie cartilage, which they can erode, or when they obstruct vision or the airway. Not commonly present at birth, these lesions develop during the first few weeks of life.

Occasionally, a small area of the scalp appears to have a well-circumscribed defect that is hairless. The patch is shiny, a deeper pink than surrounding scalp, and slightly indented. This congenital epidermal defect is called cutis aplasia and is most often harmless. However, defects more than 1 cm in diameter can be associated with other anomalies in the infant, such as trisomy 13. If such a scalp lesion is found, careful examination of the infant is crucial. Infants with large defects should be seen by a pediatrician.

Special Considerations

Although careful examination is generally all that is needed to determine the initial health of a newborn, some conditions are asymptomatic and are picked up only by screening. Screening for a variety of rare but serious inherited metabolic conditions is performed using tandem mass spectroscopy on a small sample of blood collected soon after birth. The specific conditions screened for varies by geographic location. Similarly, new recommendations by the Canadian Pediatric Society (CPS) and the American Academy of Pediatrics (AAP) that have been published for the detection and management of jaundice emphasize the need to routinely determine bilirubin levels. Screening is necessary rather than estimating by clinical observation because physical examination is not sufficiently accurate.

Summary

Remember that normality is far more common and far more variable than abnormality. Approximately 95% of babies are normal. Five percent of newborns have abnormal features of greater or lesser significance. There is no substitute for examining as many babies as thoroughly as possible to acquire the warm secure feeling that comes with an appreciation of the immense breadth of normal variation. If you are in doubt about a particular finding in a specific baby, always ask someone with more experience for advice. A good videotape demonstrating physical examination of the newborn also is available.