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Figure 3.157. In this view of the same infant as in Figure 3.156, in addition to the hypotonia, some of the characteristic craniofacial features are apparent. Note the almond-shaped, upslanting palpebral fissures and the prominent forehead. Figure 3.158. There is marked hypotonia in this infant with Prader-Willi syndrome in the prone position. It is usually severe in early infancy, and Moro's reflex and tendon reflexes are decreased or absent. Congenital dislocation of the hips is not Figure...
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Figure 3.192. Close-up of the face of the same infant showing the antimongoloid slant and colobomas of the lower eyelids which typically occur at the junction of the inner two-thirds and outer third of the lower eyelids. Note the absence of eyebrows and eyelashes, the prominent nose and the hypoplasia of the zygomatic bone. Figure 3.193. A less severe case of Treacher-Collins syndrome. Note the unilateral macros-tomia and the abnormal ear. Treacher-Collins syndrome is a familial malformation...
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Figure 2.4. A radiograph of the lower extremities showing the short proximal parts. Note that the bones are broad and short. Figure 2.4. A radiograph of the lower extremities showing the short proximal parts. Note that the bones are broad and short. Figure 2.6. A radiograph of the lower extremities in an infant with achondroplasia. Note the broad short bones with irregular and flared epiphyseal lines. Note the typical telephone handle appearance of die femur. Figure 2.7. Another example of...
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Figure 1.116. An example of ectrodactyly of both feet. Note that there are three toes on the right foot and three toes on the left foot with fusion of the first and second toes. The sole creases are poorly developed. Figure 1.116. An example of ectrodactyly of both feet. Note that there are three toes on the right foot and three toes on the left foot with fusion of the first and second toes. The sole creases are poorly developed. Figure 1.117. Microsyndactyly of die toes in an otherwise normal...
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Figure 4.32. Note the short big toes and hypoplastic nails which are typically seen in trisomy 18. The short big toes are frequently dorsiflexed. There is also syndactyly of the second and third toes bilaterally in this infant, which is a common finding in normal infants and in infants with other pathologies, and is also reported in trisomy 18. Infants with trisomy 18 may have talipes equinovarus or rocker-bottom feet. Figure 4.32. Note the short big toes and hypoplastic nails which are...
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Figure 1.109. Talipes equinovarus congenital clubfoot . There has been much discussion as to whether this is a true congenital malformation or whether it occurs as a result of a postural deformity intrauterine molding . The foot cannot be dorsiflexed to the normal position and the heel is fixed in the varus deformity. Figure 1.110. Another view of the foot of the same infant. Figure 1.111. Talipes equinovarus congenital clubfoot in an infant with Poland's anomaly. Talipes equinovarus is...
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Figure 3.189. The hands of die same infant. The figure on the left shows a single palmar crease on the right hand and the figure on die right shows a Sydney line on the left hand. A Sydney line is often reported as a single palmar crease but note that there are two separate transverse palmar creases which are joined by another crease. These palmar findings are common in many normal infants and are seen in many syndromes. Figure 3.190. Syndactyly of the second and third toes is a common finding...
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Figure 1.101. Hypoplastic right lower extremity with four toes on the right foot. Figure 1.102. The same infant showing the hypoplasia of the right lower extremity and the presence of four toes on the right foot. Note that the hypoplasia can be subtle. Figure 1.102. The same infant showing the hypoplasia of the right lower extremity and the presence of four toes on the right foot. Note that the hypoplasia can be subtle.
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Figure 3.79. In Larsen's syndrome there is a flat facies associated with a prominent forehead, a flat and depressed nasal bridge, and the eyes are wide set. Figure 3.80. A lateral view of the face of the same infant shows the very flat facies associated with a prominent forehead and depressed nasal bridge. Note that the eyes are rather deep set. Figure 3.80. A lateral view of the face of the same infant shows the very flat facies associated with a prominent forehead and depressed nasal bridge....
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Figure 3.162. In this term infant with progeria Hutch inson-Gilford syndrome there was marked growth retardation birthweight 1800 g . The face is small with a large head pseudohydrocephalus and there is a marked lack of subcutaneous tissue and prominence of the knees. This is a condition in which there is pseudose-nility with hypertension, car-diomegaly, and atherosclerosis resulting in early death at the average age of 14 years .
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Figure 1.122. Central polydactyly of the left foot with syndactyly of the first and second toes of both feet. This infant, who clinically was not typical of a trisomy 18, had the radiographic findings of a gracile appearance of the ribs and an antimon-goloid pelvis. The karyotype was a typical trisomy 18. Figure 1.122. Central polydactyly of the left foot with syndactyly of the first and second toes of both feet. This infant, who clinically was not typical of a trisomy 18, had the radiographic...
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Figure 2.48. Radiograph of the hand in an infant with Ellis-van Creveld syndrome. Note that the phalanges are short but that the proximal phalanges are relatively long compared to the others. Adults, therefore, cannot make a tight fist. Also note the fusion of the fifth and sixth metacarpals. Figure 2.49. Short-limbed dwarfism in an infant with congenital hypophosphatasia. There is failure of calcification of all bones resulting in marked bowing. This autosomal recessive condition is associated...
Robinow Syndrome Type 2
Figure 4.33. This infant did not have die typical clinical appearance of an infant with trisomy 18, but die radiographic findings of gracile ribs and antimongoloid pelvis were diagnostic. The diagnosis was confirmed by karyotype. Note the central Polydactyly of die left foot and syndactyly of the right foot. Central Polydactyly is an uncommon finding in normal infants and should alert one to the possible diagnosis of a chromosomal disorder. Figure 4.33. This infant did not have die typical...
Thanatophoric Dysplasia
Figure 2.85. The fingers of the same infant as in Figure 2.83 and 2.84 show the typical long tapering digits arachnodactyly which are often noted in spondylotho-racic dysplasia. Figure 2.86. In this figure, note the extremely long tapering toes of the same infant. Figure 2.86. In this figure, note the extremely long tapering toes of the same infant. Figure 2.87. Chest radiograph of an infant with spondylothoracic dysplasia showing the grotesque and bizarre deformity of the ribs and spine. There...
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Figure 3.21. In this figure of the same infant note the ectrodactyly lobster-clw deformity of both hands. In this condition, usually all four extremities have a lobster-claw deformity. Figure 3.21. In this figure of the same infant note the ectrodactyly lobster-clw deformity of both hands. In this condition, usually all four extremities have a lobster-claw deformity. Figure 3.24. Eagle-Barrett syndrome prune belly syndrome is also described as the triad syndrome absence of abdominal...
Musculoskeletal Disorders
Although some congenital musculoskeletal dysplasias are among the most obvious disorders of the neonate, they are also the most unusual. Congenital absence of all or part of a limb, deformities of the feet or hands, and lesions of the neck and trunk are rarely a diagnostic problem. The most common musculoskeletal dysplasias are among the most difficult to diagnose. Congenital hip dislocation may not be diagnosed even after repeated examination by experienced observers. Musculoskeletal...
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Figure 4.50. Brushfield's spots in the eyes of an infant with trisomy 21. These are aggregates of stromal fibers which form a ring around the iris near the limbus. They tend to disappear with age. Brushfield's spots may be seen in normal blue-eyed infants, but if present in infants with brown eyes they are padio-logic. Brushfield's spots are also seen in infants with Zellweger syndrome. Figure 4.51. The typical square boxy appearance of the ear in an infant with trisomy 21. Abnormalities of die...
Infant Umbilical Hernia
Figure 4.16. The same infant also had an omphalocele. The finding of cleft lip and palate with an omphalocele or large umbilical hernia should alert one to the possibility of the diagnosis of trisomy 13. Figure 4.17. Median cleft syndrome may be associated with chromosomal defects. This infant with tri-somy 13 had cyclops with anophthalmia. There is no proboscis present. There was arhinencephaly and alobar holoprosencephaly on CT scan. Figure 4.17. Median cleft syndrome may be associated with...
Disproportionate Dwarfism
Figure 2.27. Radiograph of the pelvis of the father of the same infant at the age of 25 years. Note the retarded ossification of the corpora and inferior rami of the pubic bones and the retarded ossification of the symphysis pubis i.e., symphysis pubis gap is not fused . Figure 2.27. Radiograph of the pelvis of the father of the same infant at the age of 25 years. Note the retarded ossification of the corpora and inferior rami of the pubic bones and the retarded ossification of the symphysis...
Chromosomal Disorders
Chromosomal abnormalities are fairly common. They occur in about 1 in every 200 deliveries, although many of these infants are phenotypically normal. In addition, 50 of all spontaneous abortions involve a chromosomal abnormality. Nondisjunction, where an extra chromosome or part of a chromosome is present e.g., trisomy 21 , is the most common cause of chromosomal disorders. Translocation syndromes, where chromosomal material breaks off from one chromosome and translocates to another, may not...
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Figure 3.109. Frontal view of the face of the same infant as in Figure 3.108. The facial appearance resembles that of infants with Treacher-Collins syndrome. Note the partial absence of eyebrows which is another feature in these infants. Figure 3.109. Frontal view of the face of the same infant as in Figure 3.108. The facial appearance resembles that of infants with Treacher-Collins syndrome. Note the partial absence of eyebrows which is another feature in these infants. Figure 3.111....
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Figure 3.191. This infant with Treacher-Collins syndrome mandibulofacial dysostosis shows the typical findings of antimongoloid slanting palpebral fissures, colobomas of the lateral part of the lower eyelids, deficient eyelashes, hypoplasia of the zygomatic arch, mi-crognathia, and malformed ears. The nose is prominent. Figure 3.190. Syndactyly of the second and third toes is a common finding in Smith-Lemli-Opitz syndrome, but may occur in normal patients or in many other syndromes. Figure...
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Figure 3.105. The same infant showing the Polydactyly of both hands and Polydactyly of die right foot. C. Langston Figure 3.105. The same infant showing the Polydactyly of both hands and Polydactyly of die right foot. C. Langston Figure 3.107. Full-body radiograph of die same infant. Note the marked skull defect associated with an encephalocele the bell-shaped thorax and hypoplastic lungs and the enlarged abdomen bulging in the flanks associated with the infantile polycystic kidneys. Figure...
Alobar Holoprosencephaly
Figure 4.14. A close-up view of the ears of the same infant showing the bilateral microtia. Ear abnormalities may be minimal or there may be total absence of the external auditory canal. Figure 4.14. A close-up view of the ears of the same infant showing the bilateral microtia. Ear abnormalities may be minimal or there may be total absence of the external auditory canal. Figure 4.15. A common finding in trisomy 13 is bilateral cleft lip and palate. In this infant there is microcephaly,...
Newborn With Low Set Ears
Figure 4.8. Another infant with trisomy 8 shows the dysplastic craniofacial features short nose, broad nasal bridge, prominent nares, wide philtrum, thin upper lip, and low-set ears with thick helices . Figure 4.8. Another infant with trisomy 8 shows the dysplastic craniofacial features short nose, broad nasal bridge, prominent nares, wide philtrum, thin upper lip, and low-set ears with thick helices . Figure 4.7. Trisomy 8 syndrome is usually a trisomy 8 normal mosaicism. Note die dysmorphic...
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Figure 3.170. This is a close-up view of the right upper extremity of the infant. The phocomelia has resulted in absence of humeri, radii, and ulnae. In Roberts' syndrome the malformed hands may have hypoplastic or absent thumbs and there may be abnormalities of the digits. Figure 3.169. This infant with pseudothalidomide syndrome shows the tetraphocomelia. There is no cleft lip or palate, which would make the diagnosis the pseudothalidomide syndrome rather than Roberts' syndrome. The limb...
Klippel Feil Syndrome Infant
Figure 3.61. This composite figure of the same infant as in Figure 3.60 shows the abnormalities of the ears with preauricular tags and epibulbar dermoids. Figure 3.61. This composite figure of the same infant as in Figure 3.60 shows the abnormalities of the ears with preauricular tags and epibulbar dermoids. Figure 3.62. Another infant with Goldenhar's syndrome showing the lateral facial cleft, abnormal ear, preauricular skin tag, and abnormal skin from the corner of the mouth to the ear due to...
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Figure 3.163. A close-up of the face of the same infant as shown in Figure 3.16 at age 6 weeks shows the small face with large head pseudohydrocephalus , frontal and parietal bossing, hypotrichosis scalp, eyebrows, and eyelashes , thin skin, prominent scalp veins, prominent eyes, mid-face hypoplasia, and micrognathia. The nose is thin and rather beaked. Figure 3.163. A close-up of the face of the same infant as shown in Figure 3.16 at age 6 weeks shows the small face with large head...
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Figure 2.39. This infant with chondroectodermal dysplasia Ellis-van Creveld syndrome presents with the typical short distal extremities, short ribs, polydactyly, nail hypoplasia, neonatal teeth, and congenital heart disease. Although atrial septal defect is most common, this infant had a hypoplastic left heart. Note that the extremities are plump and markedly and progressively shortened distally, that is, from the trunk to the phalanges. Birthweight was 2880 g, length was 44.5 cm lt 10th...
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Figure 3.135. If the abnormality is not obvious, then extending the arms is a means of better demonstrating the abnormality as seen in the same infant. Note the absence of the nipple. Occasionally there may be some abnormalities underlying the defect. Figure 3.135. If the abnormality is not obvious, then extending the arms is a means of better demonstrating the abnormality as seen in the same infant. Note the absence of the nipple. Occasionally there may be some abnormalities underlying the...
Skin Tags On Anus
Figure 3.195. A lateral view of the same infant showing the slightly abnormal right ear with preauricular skin tags, the prominent nose and micrognadiia. Figure 3.196. Lateral view of the same infant showing the grossly abnormal ear on the left side with atresia of the auditory canal, the antimongoloid slant, prominent nose and micrognathia. Figure 3.196. Lateral view of the same infant showing the grossly abnormal ear on the left side with atresia of the auditory canal, the antimongoloid...
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Figure 3.93. This infant, in addition, had a rectal prolapse. Note the wrinkled, loose skin associated with marked lack of adipose tissue. Figure 3.93. This infant, in addition, had a rectal prolapse. Note the wrinkled, loose skin associated with marked lack of adipose tissue. Figure 3.94. In Lowe syndrome oculocerebrorenal syndrome there is marked hypotonia and joint hypermobility. Figure 3.94. In Lowe syndrome oculocerebrorenal syndrome there is marked hypotonia and joint hypermobility....
Noonan Syndrome Infant
Figure 2.73. Radiograph of the skulls of the same twins as in Figure 2.72 showing the marked lack of mineralization. Figure 2.73. Radiograph of the skulls of the same twins as in Figure 2.72 showing the marked lack of mineralization. Figure 2.74. Short-limbed dwarfism in an infant with the Saldino-Noonan syndrome. This infant demonstrates the marked narrowing of the thorax with a large abdomen. The large abdomen is commonly seen in infants with a narrow thorax because the subcostal space is too...
Zellweger Syndrome
Figure 3.201. This infant with the VACTERL syndrome presented with vertebral anomalies of die lower dio-racic vertebrae, an esophageal atresia, dextrocardia, imperforate anus, and ambiguous genitalia. There were no anomalies of the limbs. Note the imperforate anus and ambiguous genitalia. Karyotype was normal XX. A catheter placed in the single perineal opening appeared in the colostomy. This confirmed the presence of a cloacal sac. Figure 3.202. Radiograph of this infant shows the air-filled...
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Figure 2.15. Radiograph of the lower extremities of the same infant with camptomelic dysplasia. Note the marked bowing of the long bones with cortical thickening of the concave border and thinning of the convex border. Also note the absent left fibula and hypoplastic right fibula. Figure 2.15. Radiograph of the lower extremities of the same infant with camptomelic dysplasia. Note the marked bowing of the long bones with cortical thickening of the concave border and thinning of the convex...
Microcephaly Infant
Figure 3.125. Another infant with the fetal akinesia sequence showing the marked lack of dermal ridges and creases. This infant had the typical dysmorphic features of die face, webbing of the neck, and severe intrauterine growth retardation with generalized arthrogryposis. Figure 3.127. Cryptorchidism is common in infants with the fetal akinesia sequence. Figure 3.127. Cryptorchidism is common in infants with the fetal akinesia sequence. Figure 3.128. In a body radiograph of die same infant...
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Figure 3.122. A close-up of the face of the same infant shows hypertelorism, telecanthus, and epicanthic folds, as well as the depressed nasal tip with a small mouth and micrognathia. Figure 3.122. A close-up of the face of the same infant shows hypertelorism, telecanthus, and epicanthic folds, as well as the depressed nasal tip with a small mouth and micrognathia. Figure 3.123. This same infant shows camptodactyly due to contractures in the fingers. Also note the poor dermal ridges and absence...
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Figure 3.43. Another infant with the femoral hypoplasia-unusual facies syndrome. Note the small stature, predominantly the result of the small lower limbs. Figure 3.44. Close-up of the lower extremities of the same infant showing the absence of the femora. Figure 3.45. Posterior view of the lower extremities of die same infant. Figure 3.46. Radiograph of the lower extremities of the same infant showing the absence of femora bilaterally, a hypoplastic fibula on the right and an absent fibula on...
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Figure 3.146. This infant with the popliteal pterygium syndrome popliteal web syndrome shows the unilateral cleft lip and cleft palate. There are lip pits and also note the remnants of the oral frenula which have been cut. Oral frenula are typically seen in these infants and there may be cutaneous webs between the eyelids. Figure 3.146. This infant with the popliteal pterygium syndrome popliteal web syndrome shows the unilateral cleft lip and cleft palate. There are lip pits and also note the...
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Figure 4.3. In the lateral view of the same infant note the lobeless pinnae and micrognathia. The external auditory canals are narrow. Figure 4.4. This same infant with Wolf-Hirschhom syndrome had a posterior midline scalp defect which is seen in about 10 of these infants. He also had hypospadias and cryptorchidism, a finding frequently associated with this syndrome. Other findings in infants with this syndrome include coloboma of the iris, simian crease, hypoplastic dermal ridges, talipes...
Umbilical Hernia
Figure 4.12. In the trisomy 13 syndrome Patau's syndrome there is microcephaly, a sloping forehead, grossly abnormal ears, micrognathia, and polydactyly. In this infant, in addition to these findings, there was a scalp defect and atresia of the external auditory canals. In trisomy 13 syndrome other findings include microphthalmia, anophthalmia, hypo- or hypertelorism, depressed nasal bridge, bilateral cleft lip and or palate, congenital heart disease, omphalocele, large umbilical hernia, renal...
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Figure 1.103. Congenital absence of patellae in a normal infant. This finding is also noted in trisomy 8 and Nievergelt syndrome. Figure 1.104. In this infant with die tibia reduction-polydactyly syndrome there is an absence of the tibiae bilaterally with septadactyly on the right foot and octadactyly on the left foot. Absence or hypoplasia of the tibia was seen in the dialidomide syndrome. It is odierwise rare, whereas absence of the fibula is more common. It is more common in males, more...
Cleidocranial Dysplasia
Figure 2.16. Radiograph of die upper and lower extremities showing the stippling of the epiphyses of an infant with chondrodystrophia calcificans congenita. This may occur as a rhizomelic form with a flat facies, low nasal bridge and cataracts, short humeri and femora, coronal clefts in the vertebrae, and punctate epiphyseal mineralization. It also occurs in an autosomal dominant form Conradi-Hunermann syndrome in which there is asymmetric limb shortness and early punctate epiphyseal...
Donohue Syndrome
Figure 3.89. X-ray of die neck in Larsen's syndrome. Figure 3.89. X-ray of die neck in Larsen's syndrome. Figure 3.90. This infant with leprechaunism Donohue's syndrome demonstrates the very severe intrauterine growth retardation. The infant had a birth weight of 750 g at a gestational age of 37 weeks. At age 3 weeks the weight was 780 g. Note the marked hirsutism, sunken cheeks, pointed chin, large mouth, thick lips, wide nostrils, large eyes, large ears, and enlarged clitoris. Figure 3.91. A...
Ellis Van Creveld
Figure 2.43. Postaxial Polydactyly of the toes in an infant with Ellis-van Creveld syndrome. In diis syndrome, Polydactyly is noted in the fingers in 100 of cases but is present in the toes in only 10 to 20 . Figure 2.43. Postaxial Polydactyly of the toes in an infant with Ellis-van Creveld syndrome. In diis syndrome, Polydactyly is noted in the fingers in 100 of cases but is present in the toes in only 10 to 20 . Figure 2.44. In this infant with Ellis-van Creveld syndrome, note on the left the...
Long Face Syndrome
Figure 3.55. Freeman-Sheldon syndrome whistling face syndrome or cranio-car-potarsal dystrophy is an autosomal dominant condition. Note the full forehead and mask-like facies with a small mouth giving a whistling face appearance. There is a broad nasal bridge with deep set eyes and blepharophimosis. The nose is small with hypoplastic alae nasi and a long philtrum. Note the H-shaped cutaneous dimpling on the chin and there may be a high palate and small tongue. These infants may have failure to...
Chapter 2 Dwarfism
Dwarfs frequently present in the newborn period, but sometimes the diagnosis is not obvious until there is additional disproportionate growth. There are many different kinds of dwarfs and the nomenclature is descriptive of the portions of the long bones affected. Rhizomelic shortening refers to the proximal portions of the long bones e.g., upper arms and thighs . Mesomelic shortening refers to the central segments of the long bones e.g., forearms and legs . Acromelic shortening refers to the...
Plantar Crease Is Absent -when
Figure 4.53. This infant with trisomy 21 has a single palmar crease. There is no clinodactyly but there is hypoplasia of the middle phalanx of the fifth finger as noted by the decreased distance between the finger creases. The single palmar crease is seen in about 45 of infants with trisomy 21 and is a finding in many other syndromes. Figure 4.54. This infant with trisomy 21 has clinodactyly but normal palmar creases. Clinodactyly with an absent or hypoplastic middle phalanx of the fifth finger...
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Figure 3.104. The typical findings in Meckel-Gruber syndrome dysencephalia splanchnocystica include encephalocele, polydactyly, and cystic dysplasia of the kidneys. In this infant there was marked oligohydram-nios, deformations, encephalocele, hypoplastic lungs, infantile polycystic kidneys, and polydactyly. On the left note the marked abdominal distention due to the poly-cystic kidneys and on the right note the parieto-occipi-tal encephalocele. C. Langston Figure 3.103. This is another example...
Russell Silver Syndrome
Figure 3.172. The lower extremities of the infant show the less severe changes in that the femora, tibiae, and fibulae are hypoplastic and the feet are abnormal. Figure 3.173. This infant with Rubenstein-Taybi syndrome presented at term with a birth-weight of 2700 g and a length of 48 cm. Note the prominent forehead, hypertrichosis, downslanting palpebral fissures, epicanthic folds, long eyelashes, hypertelorism, broad nasal bridge, a beaked nose with a nasal septum extending below the alae...