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Home , Asymmetric crying facies, Cystic hygroma, Monosomy, Overgrowth syndrome, Potter sequence

Physical Assessment of the Newborn

Assessment of the 13 Dysmorphic Infant Michelle Bennett, MSN, RN, NNP-BC Susan R . Meier, DNP, APRN, NNP-BC

ost infants are born healthy, and the first when evaluating the dysmorphic infant. A his- Mclinical assessment usually reveals no tory of adverse outcomes, including physical abnormality. However, for the past 20 multiple and stillbirths, can be an years, birth defects have been the leading cause important risk factor. Maternal age should be of infant mortality in the United States. Each documented because chromosomal anomalies year, approximately 3 percent of live births, or such as 21 occur more frequently with 120,000 babies, are born with major physical advancing maternal age. compli- structural defects, and one in five infant deaths cated by medical conditions such as diabetes is attributed to a .1 mellitus or hypertension increase the possi- Fifty to sixty percent of human congeni- bility for fetal physical deformities. Prenatal tal anomalies are of unknown etiology, and exposure to teratogens, including medications, approximately one third are caused by genetic infections, chemicals, and illicit drugs, must factors. A smaller percentage of birth defects be documented because certain agents cause are the result of chromosomal aberrations, gene specific structural abnormalities and functional , and environmental agents, such as diseases to be exhibited in the fetus. Critical viruses and drugs.2 periods of fetal development, dosage and dura- The identification of dysmorphic features tion of exposure to the teratogen, and genotype during the initial physical examination is a of the embryo must also be taken into consid- crucial first step in the continuum of care eration.2 Results of prenatal testing, including for affected infants. A thorough, systematic multiple marker serum screening, maternal approach by a skilled examiner can yield impor- serum α-fetoprotein testing, chorionic vil- tant findings and direct the health care team in lus sampling, and , should be providing timely and appropriate care for the recorded to identify an increased risk or a infant, as well as resources for parents. confirmed diagnosis of fetal disorders such as neural tube defects and . Additionally, Maternal and Family Histories in 2012, noninvasive blood testing, the A complete maternal medical, gynecologic, MaterniT21 PLUS test, was made available to and obstetric history should be constructed detect increased amounts of chromosomal 13,

221 13 Assessment of the Dysmorphic Infant Physical Assessment of the Newborn

18, and 21 material as well as an abnormal abnormalities than any subsequent routine number of X or Y circulating in examination done. First, the family, maternal, a pregnant woman’s blood.3 pregnancy, and perinatal histories are reviewed. A comprehensive maternal and paternal The examination is performed in an area that is family history is also helpful. A number of con- warm and quiet with good lighting. A system- genital anomalies and medical conditions can atic approach should be used. Although the exact be inherited and therefore place an infant at examination sequence is not important, a consis- risk for developing the disorder. Some of these tent approach ensures that all aspects are evalu- conditions include spina bifida; hydrocepha- ated. Assessment of gestational age should be lus; muscular dystrophy; cleft lip; cleft palate; included. Knowledge of gestational age can be congenital heart defects; polydactyly; ; important in the interpretation of physical find- congenital hip dislocation; deafness; blindness; ings, especially in infants who are noted to have childhood cataracts; cystic fibrosis; dwarfism; intrauterine growth restriction (IUGR). polycystic disease; and stomach, bowel, Appearance and posture or kidney defects. An inspection is made for deformations and There are also genetic disorders that occur obvious malformations. An abnormal facial more commonly within particular ethnic appearance or other abnormalities in appear- groups. Descendants of Ashkenazi Jewish ance can indicate the presence of a . or French Canadian ancestors may have an The newborn’s posture at rest usually reflects increased risk for Tay Sachs disease, an often intrauterine position, sometimes called the fatal disorder marked by degeneration of brain position of comfort. tissue and the maculae of the retinas. Infants of African American ancestry are at an increased Skin risk for inheriting sickle cell disease, a serious The skin is inspected for abnormalities. condition of red blood cells that are distorted Areas of abnormal pigmentation, congenital in shape and have a tendency to clump together nevi, , macular stains, or other and occlude blood vessels. Thalassemia, a unusual lesions should be noted. group of hemolytic anemias, is more prevalent Head in Mediterranean and Asian populations. The shape and size of the head are inspected. If one or both parents are of Jewish, French The presence of abnormal hair, lacerations, Canadian, African American, Mediterranean, abrasions or contusions, scalp defects, unusual or Asian descent or if a medical condition lesions, or protuberances should be noted. An occurs repeatedly in one of the partner’s fami- asymmetric skull that persists for longer than lies, the couple may consider genetic testing two to three days after birth or a palpable ridge prior to conceiving a child. If either partner along a suture line is abnormal and suggests is a carrier for a specific inheritable condition, craniosynostosis. Although occurring in nor- the significance of the results can then be dis- mal infants, craniotabes can be a pathologic cussed with the couple’s health care provider. finding with syphilis and rickets. A large anterior fontanel may be associated Physical Examination with congenital hypothyroidism, achondropla- The newborn infant should have a thor- sia, hypophosphatasia, chromosomal abnor- ough physical examination within 24 hours of malities such as , and with birth. This first examination may reveal more IUGR.4

222 Physical Assessment of the Newborn Assessment of the Dysmorphic Infant 13

Neck FIGURE 13-1 ▲ Ear placement. The is assessed for masses, decreased mobility, and abnormal- ities. Cystic hygroma, the most common lym- phatic malformation in children, typically pres- ents as a painless mass superior to the clavicle that transilluminates. Redundant skin in the neck may be a feature of some genetic . Examples include , in which the neck appears webbed due to redundant skin From: Haldeman-Englert, CR, Saitta SC, and Zackai EH. 2012. Evaluation of the dysmorphic infant. In Avery’s Diseases of the Newborn, 9th ed., Gleason CA, and along the posterolateral Devaskar SU, eds. Philadelphia: Saunders, 189. Reprinted by permission. line, and Down syn- drome, with excess skin Eyes posteriorly at the base of the neck. If spacing appears abnormal, the distance Face between eyes can be measured and compared The face is examined for symmetry. Facial to standard values (see Figure 5-15). This part palsies and are most of the examination is especially important if obvious when the newborn is crying and may other dysmorphic features that suggest a syn- go unnoticed in the sleeping or quiet infant. drome are present. The presence of epicanthal Asymmetric crying facies are the result of folds is rarely a normal finding and usually hypoplasia or congenital absence of the depres- suggests a syndrome (trisomy 21). The sclerae sor anguli muscle. Only the muscles control- should be clear and white. If the sclerae appear ling movement of one side of the mouth are deep blue, osteogenesis imperfecta should be affected, causing asymmetry of the face with considered. Glaucoma is manifested by a large crying. However, the muscles controlling cloudy cornea. Defects in the iris, such as colo- movement of the upper face are normal; so boma, should be noted. Cataracts or retino- when the infant cries, the forehead wrinkles blastomas will present as a white pupil when and both eyes close normally. Asymmetric the red reflex is assessed. crying facies have been associated with other anomalies, particularly those of the cardiovas- Ears cular system.5 Facial palsy may also be sec- The ears are in normal position when the ondary to nerve compression during delivery, helix is intersected by a horizontal line drawn which can occur as a result of forceps-assisted from the outer canthus of the eye perpendicular 6 delivery. to the vertical axis of the head (Figure 13-1). If the helix falls below this line, the ears are

223 13 Assessment of the Dysmorphic Infant Physical Assessment of the Newborn

FIGURE 13-2 ▲ Cryptorchidism. FIGURE 13-3 ▲ Polydactyly of the fingers.

Courtesy of Presbyterian/St. Luke's Medical Center, Courtesy of Presbyterian/St. Luke's Medical Center, Denver, Colorado. Denver, Colorado. low set. An ear is posteriorly rotated if its verti- widely-spaced nipples occur with some genetic cal axis deviates more than ten degrees from syndromes. the vertical axis of the head. Malformations of the external ear are often associated with Asymmetry caused by congenital anomalies syndromes of multiple congenital anomalies or masses may first be appreciated by obser- that include renal malformations. The abnor- vation. Abnormal, absent, or misplaced kid- malities may also indicate additional anomalies neys are assessed by using deep palpation (see of the middle and inner ear associated with Figures 9-2 and 9-3). Most abdominal masses hearing loss. in newborns are enlarged kidneys caused by Nose and Mouth or cystic renal disease.4,7 A sin- A depressed nasal bridge or an extremely gle is present in 0.3 percent of thin or unusually broad nose may occur in neonates, occurring more frequently in small some malformation syndromes. Clefts of the for gestational age (SGA) infants, premature soft or hard palate are visible to inspection. infants, and twins.8 Approximately 40 percent Palpation may be needed to detect a sub- of infants with a single umbilical artery have mucosal cleft. Macroglossia, or enlargement other major congenital anomalies, predomi- of the , can be seen with Beckwith- nantly involving the , Wiedemann syndrome. and have significant mortality. Bourke and Chest colleagues found that in an otherwise normal infant, a single umbilical artery is associated The chest is examined for size, symmetry, with asymptomatic renal abnormalities in and structure. A malformed or small thorax 7 percent of cases.9,10 may be the result of or neuromuscular disorders. Pectus excavatum or Genitalia pectus carinatum may occur as isolated find- The genitalia are inspected immediately ings or as part of congenital syndromes. Breast after birth to identify the infant’s gender. size and position should be noted, because

224 Physical Assessment of the Newborn Assessment of the Dysmorphic Infant 13

FIGURE 13-4 ▲ Polydactyly of the toes. FIGURE 13-5 ▲ Clubfoot.

Courtesy of Presbyterian/St. Luke's Medical Center, Denver, Colorado.

Courtesy of Presbyterian/St. Luke's Medical Center, Females Denver, Colorado. The labia minora should be separated to detect whether the hymen, which normally differentiation or congenital adrenal hyper- has some opening, is imperforate. Enlargement plasia. Infants should be evaluated promptly of the resulting from an imperforate and the appropriate gender assigned as soon hymen may be detected as a low midline as possible. abdominal mass. Anus Males The anus and should be checked , ventral location of the carefully for patency, position, and size. meatus on the penis, is relatively common. Occasionally, large fistulas are mistaken for a The meatus may be located anywhere from normal anus, but if one checks carefully, it will the proximal glans to the perineum, with more be noted that a fistula will be either anterior severe cases having a more proximal meatus. or posterior to the usual location of a normal Infants with perineal or scrotal hypospadias anus.4,11 and those with hypospadias of any location accompanied by nonpalpable testes should be Extremities evaluated for intersex conditions, including The extremities are examined for deformi- congenital adrenal hyperplasia. , ties and movement. The hands and feet are dorsal location of the meatus, is uncommon inspected for syndactyly (fusion of digits) and and usually associated with . polydactyly (extra digits) (Figures 13-3 and Ambiguous Genitalia 13-4). Syndactyly and polydactyly can be nor- Signs of ambiguous genitalia include an mal variants in a newborn with an otherwise enlarged clitoris, fused labial folds, and pal- normal examination, may be associated with pable gonads in a phenotypic female and bifid a strong family history, or may be associated scrotum, severe hypospadias, micropenis, and with various syndromes. The presence of a cryptorchidism (undescended testes) (Figure single palmar crease, or simian crease, should 13-2) in a phenotypic male. These conditions be noted. A single palmar crease occurs in may be caused by abnormalities of sexual 5–10 percent of the normal population and 225 13 Assessment of the Dysmorphic Infant Physical Assessment of the Newborn

FIGURE 13-6 ▲ Constriction defect from amniotic band. responses of parents include guilt, intense grief, anger, denial, frustration, and a sense of isolation.12 It is important to be sensitive to what the parents may be feeling. The defect should be shown to the parents and a factual description given, avoiding opinions or guesses. Genetic counseling should be provided to help parents answer any questions regarding the prognosis for the child and genetic risks for future pregnancies. Medical geneticists and genetic counselors have extensive knowledge of genetic disorders and congenital anomalies and are trained to provide families with psy- Courtesy of J. Hernandez, MD, The Children’s Hospital, Denver, Colorado. chological and emotional support. However, even a health care professional with a basic knowledge of genetics and Mendelian inheri- is common in newborns with trisomy 21. tance can be helpful when discussing the phys- Talipes equinovarus (clubfoot) (Figure 13-5) ical findings with the parents and can provide is more common in males. The foot is turned answers to general questions. downward and inward, and the sole is directed medially. If position can be corrected with gen- Problems in Morphogenesis tle force, it will resolve spontaneously. If not, Dysmorphology is the study of congenital orthopedic treatment and follow-up are neces- anomalies that alter the shape of one or more sary. The hips should be examined to detect parts of the body of a newborn child.13 A con- 4 developmental dysplasia of the hip. genital anomaly is a structural defect, pres- Trunk and Spine ent at birth, a deviation from normal. Every A tuft of hair, discoloration, or hemangi- structural defect represents an inborn error in oma in the sacrococcygeal area may suggest morphogenesis (development). Minor anoma- an underlying vertebral anomaly. Soft-tissue lies are unusual morphologic features that have masses along the spine that are covered with no serious medical or cosmetic consequences normal skin may be lipomas or myelomenin- to the patient. Almost any minor defect may goceles. A dimple without a visible base may occasionally be found as an unusual feature indicate the presence of a pilonidal sinus or in a particular family. Minor external anoma- tract to the spinal cord. lies are most common in areas of complex and variable features, such as the face, ears, hands, Sharing Findings with Parents and feet. Clinical diagnosis cannot usually be When an anomaly is identified on physical made based on a single defect. A specific diag- examination, the infant should be shown to nosis most often depends on recognition of the parents as soon as possible. The physical an overall pattern of anomalies. Single minor finding may have been identified antenatally anomalies are present in about 14 percent of by or may not have been expected. newborns; 90 percent of infants with three or Either way, a spectrum of emotional responses more minor anomalies also have one or more from the parents is to be anticipated. Common major anomaly, requiring significant surgical

226 Physical Assessment of the Newborn Assessment of the Dysmorphic Infant 13

FIGURE 13-7 ▲ Amniotic bands resulting in finger FIGURE 13-8 ▲ . amputation.

occurs in the fetal period, not in embryo­ genesis, and is a secondary defect. Congenital From: Clark DA. 2000. Atlas of . hip dislocation and clubfoot are examples of Philadelphia: Saunders, 23. Reprinted by permission. deformations that can be caused by intra­ uterine constraint. Most deformations appar- ent at birth either resolve spontaneously or or cosmetic intervention.2 Therefore, recog- can be treated using external fixation devices nition of both minor and major anomalies is to correctly position the affected part. Most equally important. deformations have a very good prognosis with Patterns of anomalies can be classified, based a very low recurrence risk. on the developmental process involved in their Disruptions result from an extrinsic insult formation, into four categories: malformation, or destruction of originally normal fetal tis- deformation, disruption, and dysplasia. A mal- sue.13,15 It is a secondary malformation. formation is a primary structural defect of an Usually, a body part rather than a specific organ or larger region of the body resulting organ is affected. Such disruptions may be vas- from an intrinsically abnormal developmental cular, infectious, or mechanical in origin. One process.14,15 Malformations arise from intrinsic example of this is disruption of normally devel- defects in genes that specify a series of devel- oping tissues by amniotic bands (Figures 13-6 opmental steps.13 A malformation in one part and 13-7).13 Disruptions are more difficult to of the body is often, but not always associated treat than deformations because they involve with malformations elsewhere. Examples of actual loss of normal tissue. Disruptions are malformations are congenital heart defects or generally sporadic with a low recurrence risk. neural tube defects. Malformations occur in Dysplasia is a primary defect involving all gradations, the manifestations ranging from abnormal organization or differentiation of nearly normal to more severe, and have a recur- cells into tissue that results in clinically appar- rence risk of 1–5 percent.16 ent structural changes.13,15 This can be local- Deformation is an alteration in form, shape, ized, for example, a hemangioma (Figure and/or position of a normally formed body 13-8), or generalized, such as achondropla- part by biomechanical forces that distort the sia (dysplasia of skeletal tissue). Dysplasias normally developing structure.14,15 It usually are usually not correctable, and the affected 227 13 Assessment of the Dysmorphic Infant Physical Assessment of the Newborn

FIGURE 13-9 ▲ Trisomy 21 (Down syndrome). children from their parents. Genetic abnormal- Typical facies and significant decrease in tone. ities are divided into three categories. Those that:18 • influence gene dosage (chromosomal abnor- malities such as trisomies) • involve mutations in the genes themselves (over 6,000 rare single-gene disorders) • create a vulnerability to developmental errors that are then influenced by environ- mental factors (multifactorial inheritance disorders such as isolated malformations or schizophrenia) The gene mutations that cause greater than Courtesy of J. Hernandez, MD, The Children’s Hospital, 6,000 individually rare disorders can be fur- Denver, Colorado. ther classified into four categories: autosomal dominant, autosomal recessive, X-linked, and individual experiences the clinical effects of mitochondrial mutations. Each individual the underlying cell or tissue abnormality for receives two sets of chromosomes, one from life.17 Malformations and dysplasias are pri- each parent. Each pair of chromosomes con- mary events in embryogenesis; disruptions and tains a pair of genes, or alleles, that normally deformations occur secondarily. The concepts work together. A mutant gene is one that has of malformation, deformation, disruption, altered in such a way that it can produce an and dysplasia are useful clinically to assist in abnormal trait. recognition, diagnosis, and treatment of con- Diseases caused by autosomal dominant genital anomalies. However, given the constel- genes are rare. A single mutant gene is domi- lation of congenital anomalies, a neonate may nant if it masks the effect of its paired gene and present with combinations of these patterns causes an obvious abnormality. The risk of the of anomalies. The occurrence of congenital single mutant gene being passed on is 50 per- anomalies can further be divided into several cent, but autosomal dominant disorders have categories: syndromes, sequences, associations, a wide range of expression and will present in and teratogenic. varying degrees between affected individuals due to influences of the normal paired gene as Genetics well as the genetic and environmental back- The nucleus of the human cell contains ground of the individual. Examples of auto- chromosomes, structures that include DNA somal dominant disorders are retinoblastoma and transmit genetic information during and . cell division and human development. Each Autosomal recessive disorders are also rare, human being has 46 chromosomes—22 pairs although the number of carriers for these dis- of and a pair of sex chromosomes eases can be high. These disorders are inherited (XX or XY) that determine gender. The chro- from normal parents who both have the same mosomes contain genes, the biologic units of recessive mutant gene. In most cases, both par- inheritance. Genes control the physical, bio- ents of an affected individual are heterozygous chemical, and physiologic traits passed along to carriers of the disease. Typically, one-fourth of

228 Physical Assessment of the Newborn Assessment of the Dysmorphic Infant 13

FIGURE 13-10 ▲ Simian crease. heterozygous. Fifty percent of male offspring of X-linked recessive women will be affected, and 50 percent of her daughters will be carri- ers. Examples of X-linked disorders are Turner syndrome and . Mitochondrial disorders result from insufficient energy production in critical tissues. Most of these disorders present after the child is born, usually with visual loss, sei- zures, encephalopathy, progressive myopathy, or diabetes. The human egg is the source of mitochondria for all offspring and is therefore inherited only from the mother. Males with disorders caused by mitochondrial mutations have no risk of passing along the disorder to their offspring. Females, however, have a risk that approaches 100 percent. Female offspring of affected women will inherit some abnor- mal mitochondria, but may not manifest the disease.18

From: Clark DA. 2000. Atlas of Neonatology. Syndromes Philadelphia: Saunders, 31. Reprinted by permission. A syndrome is a collection of anomalies involving more than one developmental region their offspring will be normal heterozygotes, or organ system or a pattern of multiple anom- 17 one-half will be normal carrier heterozygotes, alies thought to be pathogenetically related. and one-fourth will be homozygotes who have Chromosomal syndromes are the malforma- the disease. An example of an autosomal reces- tion syndromes usually diagnosed in the neo- sive disease is cystic fibrosis.19 natal period. The most common of these are Genes located on the sex chromosomes trisomy 21, trisomy 18, trisomy 13, and 45,X. cause X-linked disorders. The Y With the advent of the human genome proj- does not appear to carry any disease-causing ect, more information is now available regard- genes. X-linked dominant traits are rare, but ing chromosome structure. Once thought X-linked recessive diseases occur more com- to be associations, DiGeorge and Beckwith- monly. A single copy of a mutant gene on the Wiedemann have now been found to have will be expressed in the male chromosomal abnormalities as an underlying because he has no normal partner gene. His etiology and are more correctly categorized as daughters will all be carriers because they will syndromes. receive his X gene, and his sons will all be nor- Trisomy 21 (Down Syndrome) mal because they receive his Y gene. Because The incidence of trisomy 21 is 1/650–1,000 females receive an X chromosome from each live births, making it the most common pat- parent, they can be homozygous normal, tern of malformation in man.20 Down syn- homozygous for the X-linked disease, or drome can usually be diagnosed at birth or

229 13 Assessment of the Dysmorphic Infant Physical Assessment of the Newborn

FIGURE 13-11 ▲ Trisomy 18. A. Prominent occiput; short sternum; micrognathia; malformed, low-set ears. B. Overlapping fingers.

Courtesy of J. Hernandez, MD, The Children’s Hospital, Denver, Colorado. soon after by its dysmorphic features that findings include prenatal and postnatal growth produce a distinctive phenotype. Principal deficiency, micrognathia, overlapping dig- features include hypotonia, poor or absent its, complex congenital heart disease, low-set Moro reflex, hyperextensibility of joints, excess ears, rocker-bottom clubfeet, and generalized skin at the nape of the neck, flat facial profile hypertonicity. Associated anomalies include (Figure 13-9), low-set ears, slanted palpebral tracheoesophageal fistula or , fissures, and single transverse palmar (simian) hemivertebrae, omphalocele, myelomeningo- creases (Figure 13-10). Associated anomalies cele, and radial dysplasia. include congenital heart defects (30–40 per- Trisomy 13 () cent); increased incidence of , The incidence of trisomy 13 is approxi- esophageal atresia, and imperforate anus; and mately 1/10,000 live births.21 Trisomy 13 significant hearing loss (90 percent). Most of (Figure 13-12) is highly lethal with a mean life the features of trisomy 21 can occur as isolated expectancy of 130 days.15 This malformation features in normal infants. It is the combina- pattern is quite distinguishable and clinically tion of features forming a recognizable pattern recognizable. Physical findings include oral- that permits early diagnosis. facial clefts, microphthalmia or absence of the Trisomy 18 () eyes, low-set ears, rocker-bottom feet, moder- The incidence of trisomy 18 is approximately ate microcephaly, polydactyly, scalp cutis apla- 1/5,000–7,000 live births.15 There is a 4:1 pre- sia, and congenital heart disease. Associated ponderance of females to males. The Edwards anomalies include cleft lip and palate, cystic syndrome phenotype is as distinct as Down kidneys, holoprosencephaly, and other severe syndrome, but because it is less common, it is central nervous system malformations. The less likely to be recognized clinically. Trisomy identification of multiple midline defects is a 18 syndrome (Figure 13-11) is highly lethal, way to recognize trisomy 13. with 50 percent mortality within the first sev- 45,X (Turner Syndrome) eral weeks of life. Only 5 percent of affected The incidence of X or Turner infants will survive the first year, and they syndrome is approximately 1/2,500 live-born will have severe mental deficiencies.14 Physical females.22 Ninety-five percent of conceptions 230 Physical Assessment of the Newborn Assessment of the Dysmorphic Infant 13

FIGURE 13-12 ▲ Trisomy 13. FIGURE 13-13 ▲ Turner syndrome. Bilateral cleft lip and palate, low-set ears, beak nose, (hands), webbed neck, low posterior hair and polydactyly. line, low-set ears

Courtesy of J. Hernandez, MD, The Children’s Hospital, Denver, Colorado.

Courtesy of J. Hernandez, MD, The Children’s Hospital, Denver, Colorado. functional defects of the thymus, conotrun- cal heart defects, hypoparathyroidism, and secondary hypocalcemia.14 DiGeorge syn- are miscarried or stillborn. The 45,X syndrome drome is detected in approximately 1/5,000 (Figure 13-13) is usually compatible with live births.15 Symptoms vary from patient survival if the fetus reaches term gestation. to patient. Physical findings of DiGeorge Females with Turner syndrome can often be syndrome include cardiac anomalies, usu- identified at birth or before puberty by their ally conotruncal in nature, such as truncus distinctive phenotypic characteristics. Physical ­arteriosus or aortic arch anomalies (approxi- findings include small stature, short webbed mately 75 percent), cleft palate (approximately neck, lymphedema of the hands and feet, 70 percent), immunodeficiency due to thymic frontal prominence, low posterior hairline, hypoplasia (approximately 75 percent), and and broad chest with widely-spaced nipples. craniofacial features that include microcephaly, Associated anomalies include congenital heart abnormally shaped ears, prominent nasal root defects, structural kidney defects, and gonadal with bulbous nasal tip, and hooded eyelids. dysgenesis. However, some neonates have no identify- DiGeorge Syndrome ing craniofacial features. Associated findings DiGeorge syndrome is a chromosomal dele- include renal anomalies, hearing loss, signifi- tion of 22q11.2 characterized by structural or cant feeding problems, and hyperextensibil- ity of hands and fingers. Hypocalcemia is a 231 13 Assessment of the Dysmorphic Infant Physical Assessment of the Newborn

FIGURE 13-14 ▲ Constraint deformities. A. Secondary to Potter sequence: narrow, flared thorax, folded ear. B. Typical Potter facies: flattened nose, ear anomalies, furrowed brow.

Courtesy of J. Hernandez, MD, The Children’s Hospital, Denver, Colorado.

prominent laboratory finding secondary to (macrosomia) and continue to grow and gain absence or hypoplasia of the parathyroid glands weight at an unusual rate during childhood. and thymus. Etiology has been associated with Associated anomalies include renal malforma- prenatal exposure to alcohol and isotretinoin tions and cardiomyopathy. Polyhydramnios (Accutane). There is significant neonatal mor- and a high incidence of prematurity are also bidity and mortality associated with the car- common historical findings. Early diagnosis diac defects, immunodeficiency, and seizures and aggressive treatment of hypoglycemia may related to hypocalcemia. prevent mental deficits. Beckwith-Wiedemann Syndrome CHARGE Syndrome Beckwith-Wiedemann syndrome is caused CHARGE syndrome is an acronym for by a mutation or within the chromo- coloboma, heart anomaly, choanal atresia, some 11p15.5 region. An estimated 1/13,700 restricted growth and development, genital newborns are affected. Beckwith-Wiedemann anomalies, ear anomalies and/or deafness syndrome is usually identifiable at birth caused by mutations on the CHD7 gene because the infant will be large for gestational located on chromosome 8q12 (OMIM). Not age, and have refractory hypoglycemia, a all features need be present, and the extent of large tongue, creases on the earlobe, and an involvement of each system is widely variable.17 omphalocele. Hyperplasia of a limb or one side CHARGE syndrome is diagnosable when of the face or trunk may be present at birth. three or four major criteria or two major and Classified as an overgrowth syndrome, affected three minor criteria are present. Occurrence infants are considerably larger than normal of CHARGE syndrome is 1/12,000 live

232 Physical Assessment of the Newborn Assessment of the Dysmorphic Infant 13

FIGURE 13-15 ▲ Scoliosis. FIGURE 13-16 ▲ X-ray of scoliosis.

Courtesy of Presbyterian/St. Luke's Medical Center, Denver, Colorado.

amniotic band sequence, arthrogryposis, and births.23 CHARGE syndrome often presents . as a medical emergency because of the presence of choanal atresia, serious heart defects, and Potter Sequence swallowing difficulties. Associated anomalies The incidence of Potter sequence is 1/3,000– include cleft lip and palate as well as unilateral 9,000 live births.15 Almost all of these infants facial palsies. Most patients have some degree die in the neonatal period due to pulmonary of mental deficiency or central nervous system hypoplasia. Potter sequence is caused by severe defect and visual or auditory anomalies that oligohydramnios (Figure 13-14). Renal agen- further compromise cognitive function. esis, polycystic kidneys, urinary tract obstruc- tion, or chronic leakage of Sequences may be the cause of oligohydramnios. This A sequence is a pattern of multiple anoma- results in intrauterine constraint of the fetus lies derived from a single known or presumed and pulmonary hypoplasia. Physical findings structural defect or mechanical factor followed include refractory respiratory distress, fre- by a cascade of secondary effects.15 The most quently with concomitant pneumothoraces, common nonchromosomal deformation or dis- clubfeet, hyperextensible fingers, large ears, ruption sequences diagnosed in the neonatal low inner eye folds, and a beak nose. Anuria is period are Potter oligohydramnios sequence, typically present in the newborn. Associated

233 13 Assessment of the Dysmorphic Infant Physical Assessment of the Newborn

TABLE 13-1 ▲ Some Teratogens Known to Cause Human Congenital Anomalies or Birth Defects

Adapted from: Moore KL, Persaud TVN, and Torchia MG. 2013. The Developing Human: Clinically Oriented Embryology, 9th ed. Philadelphia: Saunders, 488. Reprinted by permission.

234 Physical Assessment of the Newborn Assessment of the Dysmorphic Infant 13 anomalies include congenital heart defects, arthrogryposis is part of a multiple defect syn- Eagle-Barrett syndrome (prune belly syndrome drome. Affected infants should also be assessed [absent abdominal musculature, urinary tract for scoliosis (Figures 13-15 and 13-16) and hip abnormalities, and cryptorchidism]), esopha- dislocation. geal and duodenal atresias, imperforate anus, Pierre Robin Sequence and Pierre Robin sequence. Diagnosis is usu- Pierre Robin sequence occurs in approxi- ally confirmed by renal ultrasound and autopsy mately 1/8,500 live births.15 The initiating findings of urinary tract abnormalities. defect of this sequence is severe hypoplasia of Amniotic Band Sequence the mandible causing the tongue to be poste- The incidence of amniotic band sequence riorly located, resulting in severe upper airway is approximately 1/8,000–11,000 live births.15 obstruction and cleft palate. Physical findings Early amnion rupture occurs, and small bands include micrognathia, cleft palate, and low-set of amnion encircle developing structures, ears. Respiratory distress secondary to upper usually limbs, leading to constrictions, intra- airway obstruction may be present. Many syn- uterine amputations, and/or umbilical cord dromes have the craniofacial features of Pierre constriction (see Figures 13-6 and 13-7). In Robin sequence. If noncraniofacial primary addition, deformational defects occur second- malformations are present, then other diag- ary to decreased fetal movement, the result of noses should be considered. tethering of a limb by an amniotic band. The decreased fetal movement may result in scolio- Associations sis or foot deformities. No two affected fetuses Association refers to a nonrandom occur- will have the exact same features, and there rence of multiple malformations for which no is no single feature that consistently occurs. specific or common etiology has been identi- Anomalies of the extremities include congeni- fied.6 The most usual association is VATER/ tal partial or irregular amputations, constric- VACTERL. tion rings, and distal swellings. Craniofacial VATER/VACTERL Association anomalies can include microcephaly, encepha- VATER/VACTERL is an acronym that loceles, and facial clefts. Examination of the includes vertebral anomalies, anal atresia, placenta and membranes is diagnostic. tracheoesophageal fistula, and radial and/ Arthrogryposis or renal dysplasia. Cardiac defects, single (Multiple Joint Fixations) umbilical artery, limb abnormalities, and Arthrogryposis occurs in approximately IUGR are also nonrandom features of this 1/8,000 live births.15 Physical findings include pattern of anomalies. VATER/VACTERL joint contractures, extensions, and dislocations. occurs in 1/5,000 live births, and the etiology Joint contractures can be secondary to intrinsic is unknown.15 Diagnosis requires exclusion factors affecting the fetus such as early onset of other similar disorders, including chromo- of neurologic, muscle, and joint problems somal syndromes. Most infants diagnosed with or to extrinsic factors such as fetal crowding VATER/VACTERL have normal brain func- and constraint. Neurologic abnormality is the tion and thus merit vigorous attempts toward most common cause of arthrogryposis. Non– rehabilitation. joint-related anomalies may indicate that the

235 13 Assessment of the Dysmorphic Infant Physical Assessment of the Newborn

FIGURE 13-17 ▲ Embryonic and fetal development.

From: Moore KL, Persaud TVN, and Torchia MG. 2013. The Developing Human: Clinically Oriented Embryology, 9th ed. Philadelphia: Saunders, 489. Reprinted by permission.

Teratogens be disrupted (Figure 13-17). The most critical Although the human embryo is well pro- period in development is when cell division, tected in the uterus, maternal exposure to cell differentiation, and morphogenesis are at teratogens may cause developmental disrup- their peak. tions. A teratogen is any agent external to the Fetal Alcohol Syndrome fetus that causes a structural or functional Alcohol is thought to be the most common disability postnatally. Teratogens can be teratogen to which a fetus may be exposed. The drugs and chemicals, altered maternal meta- incidence of this disorder in the United States bolic states, or infectious agents (Table 13-1). is estimated to be 1–2/1,000 live births.15 Known teratogenic factors cause 5–10 percent Common features include short palpebral fis- of congenital anomalies. Susceptibility to a sures, epicanthal folds, a flat nasal bridge, a teratogen is determined by the embryologic long, simple philtrum, a thin upper lip, small stage of development when exposed. Each hypoplastic nails, irritability in infancy, and part, tissue, and organ of an embryo has a growth deficiency. Associated anomalies are critical period during which development can cardiac defects, ventricular septal defect being 236 Physical Assessment of the Newborn Assessment of the Dysmorphic Infant 13 the most common, and microcephaly. Long- of the forebrain to divide into hemispheres), term effects include mental deficiency and meroencephaly (partial absence of the brain), behavioral problems.15,24 sacral agenesis, vertebral anomalies, congenital Fetal Cocaine Syndrome heart defects, limb defects, and renal anoma- lies. Improved diabetic control during gesta- Cocaine is one of the most commonly tion dramatically decreases the incidence of abused illicit drugs.13 Infants characteristi- diabetes-related malformations, but does not cally are SGA and present with hyperirrita­ reduce it back to the level of incidence for a bility. No definitive physical findings have mother without diabetes. been established. There is an increased inci- dence of genitourinary tract anomalies such Infectious Diseases as hydronephrosis, hypospadias, and Eagle- Congenital anomalies also may be associ- Barrett syndrome, as well as central nervous ated with certain infections during pregnancy. system abnormalities such as microcephaly, The common and best-understood infections porencephaly, and infarction that may occur. are represented by the acronym TORCH, t o Anticonvulsants which stands for oxoplasmosis, ther agents (including syphilis), rubella, cytomegalovirus, Phenytoin (Dilantin) and valproic acid and . TORCH infections may are commonly prescribed for management of present with similar clinical findings: IUGR; maternal epilepsy; however, both are terato- hepatosplenomegaly; rash; central nervous gens. Fetal hydantoin syndrome is charac- system manifestations such as microcephaly, terized by a typical facies (broad, low nasal chorioretinitis, and intracranial calcifications; bridge, hypertelorism, epicanthal folds, pto- jaundice; and low platelets. sis, and prominent, malformed ears), low-set hairline, and nail hypoplasia. Cleft lip and Resources palate and umbilical and inguinal hernias The World Wide Web is a powerful tool to are associated anomalies.15 Fetal valproate utilize when searching for information regard- syndrome features consist of a prominent or ing birth defects, including specific conditions, fused metopic suture, epicanthal folds, mid- diagnosis, prevention, screening, research, and face hypoplasia, and broad, low nasal bridge national organizations. An abundance of reli- with short nose and long philtrum. Congenital able and up-to-date information from expert heart defects, ­genitourinary anomalies, and sources can be accessed in a short time. Each club feet are associated anomalies. of the sources listed below provides links to Infants of Diabetic Mothers alternate websites if additional information is Maternal altered metabolic states can lead desired. to a higher risk for abnormalities in the new- Online Resources for Birth Defect born. Poorly controlled maternal diabetes Information mellitus with persistent hyperglycemia and March of Dimes Birth Defects Foundation ketosis, particularly during embryogenesis, http://www.marchofdimes.com/professionals is associated with a two- to three-fold higher National Institute of Child Health and Human Development incidence of birth defects.2,15 Infants of dia- http://www.nichd.nih.gov Centers for Disease Control and Prevention betic mothers (IDMs) present with anomalies http://www.cdc.gov/ncbddd/birthdefects/index.html in approximately 1/2,000 births. Common National Newborn Screening and Genetics Resource Center anomalies include holoprosencephaly (failure http://genes-r-us.uthscsa.edu/

237 13 Assessment of the Dysmorphic Infant Physical Assessment of the Newborn

The Society for congenital malformations: A meta-analysis. Journal http://www.teratology.org/ of Pediatric 33(4): 580–585. Online Mendelian Inheritance in Man 9. Lissauer T. 2011. Physical examination of the newborn. http://www.ncbi.nlm.nih.gov/omim In Neonatal-Perinatal : Diseases of the Fetus and Infant, 9th ed., Fanaroff AA, Martin RJ, and Walsh Medline Plus MC, eds. Philadelphia: Mosby, 485–500. http://www.nlm.nih.gov/medlineplus/birthdefects.html 10. Bourke WG, et al: 1993. Isolated single umbilical Gene Tests artery—the case for routine renal screening. Archives of http://www.ncbi.nlm.nih.gov Disease in Childhood 68(5 Spec No): 600–601. The Genetic Alliance 11. Gomella TL, et al. 2013. Surgical diseases of the new- http://www.geneticalliance.org/ born: Alimentary tract obstruction. In Neonatology: Management, Procedures, On-Call Problems, Diseases, and Drugs, 7th ed., New York: Lange, 881–885. Summary 12. Klaus MH, Kennell JH, and Edwards WH. 2011. Care of the mother, father, and infant. In Neonatal- The approach to the evaluation of the Perinatal Medicine: Diseases of the Fetus and Infant, 9th ed., Fanaroff AA, Martin RJ, and Walsh MC, eds. dysmorphic infant is multifaceted and Philadelphia: Mosby, 615–627. begins with a thorough history and physi- 13. Nussbaum RL, McInnes RR, and Willard HF. 2007. Thompson & Thompson Genetics in Medicine, 7th ed. cal examination. With experience, the exam- Philadelphia: Saunders. iner’s identification of physical findings on 14. Jorde LB, Carey JC, and Bamshad MJ. 2010. Medical the continuum of normal to abnormal is Genetics, 4th ed. Philadelphia: Mosby. 15. Gomella TL, et al. 2013. Common multiple congeni- enhanced. A general knowledge of genet- tal anomaly syndromes. In Neonatology: Management, ics and common disorders is helpful when Procedures, On-Call Problems, Diseases, and Drugs, 7th ed. New York: Lange, 599–606. counseling parents. Multiple resources 16. Jones KL, Jones MC, and DelCampo M. 2013. including geneticists, genetic counselors, and Dysmorphology approach and classification. In Smith’s Recognizable Patterns of Human Malformation, 7th ed. Internet websites are available to health care Philadelphia: Saunders, 1–6. professionals and parents who are involved 17. Halderman-Englert CR, Saitta SC, and Zackai EH. 2012. Evaluation of the dysmorphic infant. In Avery’s in providing care to the dysmorphic infant. Diseases of the Newborn, 9th ed., Gleason CA, and Devaskar SU, eds. Philadelphia: Saunders, 186–195. References 18. Jones KL, Jones MC, and DelCampo M. 2013. 1. March of Dimes. 2013. Birth Defects Monitoring Genetics, genetic counseling and prevention. In Smith’s Program. Retrieved May 17, 2013, from Perinatal Data Recognizable Patterns of Human Malformation, 7th ed. Snapshots, www.marchofdimes.com/peristats. Philadelphia: Saunders, 870–893. 2. Moore KL, Persaud TVN, and Tochia MG. 2013. 19. McCance KL, and Huether SE. 2010. Pathophysiology: Human birth defects. In The Developing Human: The Biologic Basis for Disease in Adults and Children,6th Clinically Oriented Embryology, 9th ed. Philadelphia: ed. Philadelphia: Mosby, 122. Saunders, 471–501. 20. Jones KL, Jones MC, and DelCampo M. 2013. 3. Sequenom Center for Molecular Medicine. 2013. Chromosomal abnormality syndromes identifiable MaterniT21PLUS. Retrieved May 29, 2013, from www. on routine karyotype: Down syndrome. In Smith’s sequenomcmm.com. Recognizable Patterns of Human Malformation, 7th ed. 4. Gomella TL, et al. 2013. Newborn physical examina- Philadelphia: Saunders, 7–13. tion. In Neonatology: Management, Procedures, On-Call 21. Jones KL, Jones MC, and DelCampo M. 2013. Problems, Diseases, and Drugs, 7th ed., New York: Lange, Chromosomal abnormality syndromes identifiable on 43–65. routine karyotype: Trisomy 13. In Smith’s Recognizable 5. Rioja-Mazza D, et al. 2005. Asymmetric crying facies: Patterns of Human Malformation, 7th ed. Philadelphia: A possible marker for congenital malformations. Journal Saunders, 20–23. of Maternal-Fetal & Neonatal Medicine 18(4): 275–277. 22. Jones KL, Jones MC, and DelCampo M. 2013. 6. Parikh AS, and Wiesner GL. 2011. Congenital anoma- Chromosomal abnormality syndromes identifiable lies. In Neonatal-Perinatal Medicine: Diseases of the Fetus on routine karyotype: 45X syndrome. In Smith’s and Infant, 9th ed., Martin RJ, Fanaroff AA, and Walsh Recognizable Patterns of Human Malformation, 7th ed. MC, eds. Philadelphia: Mosby, 531–552. Philadelphia: Saunders, 78–83. 7. Gomella TL, et al. 2013. Surgical diseases of the new- 23. Online Mendelian Inheritance in Man. 2013. Entry born: Abdominal masses. In Neonatology: Management, #214800 CHARGE Syndrome. Retrieved May 22, Procedures, On-Call Problems, Diseases, and Drugs, 7th 2013, from www.omim.org/entry/214800. ed., New York: Lange, 877–881. 24. Jones KL, Jones MC, and DelCampo M. 2013. 8. Thummala MR, Raju TN, and Langenberg P. 1998. 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