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Larsen Syndrome

Radiograph of bilateral dislocation of the knee joints in Larsen's syndrome. Figure 3.88. Radiograph of die spine of an infant with Larsen's syndrome showing the abnormal segmentation of the vertebrae, especially in the cervical and upper thoracic areas. Also note the dislocation of the hip joints. Figure 3.88. Radiograph of die spine of an infant with Larsen's syndrome showing the abnormal segmentation of the vertebrae, especially in the cervical and upper thoracic areas. Also...

Male Genitalia Deformities

Abnormal Male Genitalia Neonate

The right ear in this infant demonstrates the characteristic cupping (tulip-shaped) deformity noted in infants with trisomy 18. Figure 4.26. The right ear in this infant demonstrates the characteristic cupping (tulip-shaped) deformity noted in infants with trisomy 18. Figure 4.27. Coloboma of the left eye of this infant with trisomy 18. Other ophthalmologic findings in trisomy 18 include short palpebral fissures, hypoplasia of the orbital ridges, and corneal opacities. Figure 4.28....

Incomplete Separation

Moles Between Toes

Partial cutaneous syndactyly represents an incomplete separation of the fingers and occurs most commonly between the third and fourth fingers and between the second and third toes. Syndactyly is the most frequent form of hand anomaly. It is often bilateral and may be combined with Polydactyly, congenital finger amputations, and syndromes. Syndactyly refers to fusion of the soft tissues without synostosis bony fusion . If there is synostosis, the term symphalangism is used. Figure...

Treacher Collins Syndrome

Treacher Collins Syndrome

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...

Achondroplasia Categories

Example Short Bones

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...

Rocker Bottom Foot Deformity

Congenital Talipes Equinovarus

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...

Syndrome De Larsen Images

Microcephalic Newborns

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....

Warts Between Toes Pictures

Warts Toes

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...

Robinow Syndrome Type

Mosaic Turner Syndrome

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

Thanatophoric Dysplasia

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...

Prune Belly Images

Cryptorchidism Pictures Newborns

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

Hemivertebra Removal

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...

Wart On Finger Crease

Infant Eye Spot Pupil

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

Anophthalmia

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

Thanatophoric Dysplasia

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

Wolf Hirschhorn

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...

Treacher Collins Treatment

Severe Brachydactyly

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....

Babies With A Trach

Nager Acrofacial Dysostosis Syndrome

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

Bilateral Cleft Lip And Palate Pictures

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

Trisomy Mosaicism

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...

Klippel Feil Syndrome Infant

Hallermann Streiff Francois Syndrom

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...

View Pictures Of Hydrocephalus

Hydrocephalus Infant

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...

Very Small Penis

Very Small Penis

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...

Should The Latissimus Dorsi Be Visible On A Child

Surgery Microcephalic

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

Sindrom Vacterl

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...

Loose Joints In Infants

Rectal Skin Tags

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

Noonan Syndrome

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

Ambiguous Genitalia

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...

Cortical Bone Thickening

Robinow Syndrome

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...

Dysmorphic Features In Newborns

Talipes Equinus

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...

Fraser Syndrome

Cryptophthalmos With Other Malformations

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...

Umbilical Hernia

Newborn Umbilical Hernia Pictures

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...

Cleidocranial Dysplasia

Warfarin Stippled Bone Epiphyses

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

Enlarged Clitoris

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

Ellis Van Creveld Syndrome Drumstick

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

Whistling Face Syndrome

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...

Dwarfism

Hypochondroplasia Forehead

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...

Russell Silver Syndrome

Adult Caudal Regression Syndrome

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...

Bilateral Bifid Fifth Toes

Arthrogryposis Multiplex Congenita

Symmetrical syndactyly of the toes in an infant with Apert's syndrome acrocephalosyndactyly . In symphalangism, no joint movement whatever is possible at the sites of the affected interphalangeal joints because the bony fusion has taken place. The absence of flexion creases is an excellent clue to the presence of this anomaly. Figure 1.127. Another example of symmetrical syndactyly of the toes in Apert's syndrome. Figure 1.127. Another example of symmetrical syndactyly of the toes...

Non Chromosomal Syndromes Associations and Sequences

Beckwith Wiedemann

A syndrome, association, sequence, or complex is a constellation of abnormal physical signs, each nonspecific in isolation but resulting in a mosaic that can be diagnosed with confidence. The pathogenic mechanisms involved are variable. The clinical presentation depends on the pathogenic mechanism and the time of occurrence. Approximately 2 of all newborn infants have a significant malformation which may be relatively simple or complex. The later the defect develops in gestation, the more...

Parietal Bossing

Frontal Bossing

Radiograph of the chest shows the absence of the clavicles. Figure 2.19. The same infant as in Figure 2.18 with cleidocranial dysplasia showing the approximation of the shoulders in front of the chest due to the absence of the clavicles. These infants present with other findings. Aplasia or defective development of the clavicles and laxity of the ligaments allow the forward folding of the shoulders. Defective mineralization of other parts of the skeleton may occur. Figure 2.20....

Newborn Marfan Syndrome

Marfan Syndrome Infant

A term newborn with Marfan syndrome who had a birth weight of 3720 g and a length of 54 cm. Note the tall stature with long slim limbs and hypotonia. In Marfan syndrome, limbs are disproportionately long and trunk length is usually normal resulting in a low upper lower segment ratio. Ophthalmologic and cardiovascular pathologies, such as dislocation of the lens and aneurys-mal dilatation of the aorta, are usually noted after the neonatal period. Figure 3.98. A term newborn with...

Charge Association

Charge Coloboma

The same infant with Caffey's syndrome. Note that the left arm is normal but the right forearm is swollen and tender. Figure 3.7. A radiograph showing die cortical hyperostosis of the jaw in an infant at the age of 4 2 months. Figure 3.8. Lower extremity radiograph of die same infant at the age of 1 month. Note the early cortical hyperostosis of the femur and tibia. Figure 3.9. Follow-up radiograph of the lower extremity in the same infant at the age of 4 2 months shows the marked...

Infant Ear Syndrome

Klippel Feil Syndrome Infant

Posterior view of the same infant showing the short neck congenital brevicollis and the low hairline. Figure 3.69. Posterior view of the same infant showing the short neck congenital brevicollis and the low hairline. Figure 3.70. A lateral view of the face, neck and chest of another infant with Klippel-Feil syndrome. Note the extremely short neck with low hairline and very abnormal ear. Figure 3.70. A lateral view of the face, neck and chest of another infant with Klippel-Feil...

Triangular Facies

Russell Silver Syndrome Pictures

Close-up of the face of the same infant showing again the disproportion between the large head and the small face which tapers to a narrow jaw giving rise to a triangular facies. The fronto-occipital circumference is normal and the fontanelles are enlarged. Note the frontal bossing, prominent eyes, long eyelashes, and downturned angles of the mouth giving a carp-like appearance , micrognathia, and posteriorly rotated ears. A triangular facies is often the result of a disparity...

Anteverted Nostrils

Mild Microcephaly

The same infant with Smith-Lemli-Opitz syndrome had a small cleft in the soft palate. Figure 3.184. Lateral view of the face of the same infant. Note the long eyelashes, the ptosis of the eyelids, anteverted nostrils and the mild micrognathia. Figure 3.184. Lateral view of the face of the same infant. Note the long eyelashes, the ptosis of the eyelids, anteverted nostrils and the mild micrognathia. Figure 3.185. The same infant with Smith-Lemli-Opitz syndrome had a small cleft in...

Gluteal Asymmetry And Newborn

Gluteal Folds Newborns

Palmar adduction cortical thumb in a normal infant. The thumbs are freely mobile but are held adducted and flexed across the palms with the fingers tightly clutched over them. Cortical thumbs are a manifestation of hypertonicity when they are present beyond the first 3 to 4 months. Constant palmar adduction or clasped thumb after this age would alert one to the possibility of central nervous system pathology. Clasped thumbs are held in a flexed and adducted position across the palm...

Newborn Neck Webbing

Jarcho Levin Syndrome

The marked webbing of the neck is again noted in this same infant with Turner syndrome. This results in the appearance of a shortened neck. The webbing of the neck occurs as a result of redundant skin. A short neck may result from absence, malformation or coalescence of one or more cervical vertebrae, often giving the impression that the head is resting directly on the shoulders Klippel-Feil syndrome, Jarcho-Levin syndrome . Neck webbing or high placement of the scapulae can give a...

Brushfield Spots And Hypotonia

Wart Crease Elbow

Stippling of the epiphyses and hyoid are common in Zellweger syndrome. This radiograph of the neck shows stippling at the hyoid bone. Figure 3.205. Stippling of the epiphyses and hyoid are common in Zellweger syndrome. This radiograph of the neck shows stippling at the hyoid bone. Figure 3.206. Early punctate mineralization of the patella is a common finding, and note the stippling at the knee joints and ankles. Figure 3.207. Radiographs of the upper extremities of the same infant...

Imperforate Anus

Anus Infant

This infant with Apert's syndrome acrocephalosyndactyly shows symmetric syndactyly of both hands. In Apert's syndrome, total syndactyly may involve the full length of the hands or feet. They appear cupped and mitten-like and may have a single undulating band-shaped nail. Figure 1.68. This infant with Apert's syndrome acrocephalosyndactyly shows symmetric syndactyly of both hands. In Apert's syndrome, total syndactyly may involve the full length of the hands or feet. They appear...

Hypo Plastic Toe Nails

Turners Syndrome

Note the hypoplastic nails in the same infant with Turner's syndrome. Hypoplastic finger and toe nails are commonly noted in infants widi Turner's syndrome in that the nails are narrow, hyperconvex, and may be deep set. Figure 4.63. Note the hypoplastic nails in the same infant with Turner's syndrome. Hypoplastic finger and toe nails are commonly noted in infants widi Turner's syndrome in that the nails are narrow, hyperconvex, and may be deep set. Figure 4.64. Note the marked...

Golden Har Sydrome In Babies

Macrostomia

In this figure of the same infant, note the contractures of the toes. Talipes equinovarus may be present. Figure 3.57. In this figure of the same infant, note the contractures of the toes. Talipes equinovarus may be present. Figure 3.58. Goldenhar's syndrome facio-auriculovertebral spectrum oculoauriculoverte-bral dysplasia is associated with abnormalities of the first and second branchial arches. This infant shows the antimongoloid slant, bilateral macrostomia, and skin tags. Over...

Severe Microcephaly

Microcephaly Pictures

In Seckel's bird-headed dwarfism there is severe growth retardation with proportional dwarfism. This infant at 35 weeks gestation had a birth weight of 910 g, a length of 31.5 cm, and a head circumference of 23 cm, all less than the 10th percentile. There was severe microcephaly with premature fusion of all sutures, prominent eyes, a prominent beak-like nose, micrognathia, and malformed ears low-set and lack of lobe . These infants have postnatal growth retardation and moderate to...

Labial Skin Tags

Newborn Labia Minora

A close-up of the genitalia of the same infant as shown in Figure 3.150 shows the divided scrotum with cryp-torchidism on the right. In female infants there may be hypoplastic labia minora and the genitalia may be ambiguous. Figure 3.151. A close-up of the genitalia of the same infant as shown in Figure 3.150 shows the divided scrotum with cryp-torchidism on the right. In female infants there may be hypoplastic labia minora and the genitalia may be ambiguous. Figure 3.152. This...

Prominent Occiput Infant

Severe Osteogenesis Imperfecta

Radiograph of an infant with metatropic dysplasia. This is another form of dwarfism associated with a narrow thorax, thoracic kyphoscoliosis and metaphyseal flaring giving the typical dumb-bell appearance . The proportion of the length of the trunk to the extremities reverses during childhood. At first the trunk is too long and the extremities too short. With increasing kyphoscoliosis the trunk becomes short. Figure 2.61. Radiograph of an infant with metatropic dysplasia. This is...

Thick Eyebrows Syndrome

Ectrodactyly

Close-up of face of the same infant as in Figure 3.12. Note the hirsutism, bushy eyebrows, downward slanting palpebral fissures, and micrognathia. Figure 3.14. This infant with Cornelia de Lange's syndrome shows many of the characteristic findings coarse, mop-like hair bushy eyebrows and synophrys confluent, thick eyebrows long curly eyelashes short nose with small anteverted nostrils thin lips with a small midline beak of the upper lip long philtrum and downward curving of the...

Thrombopenia Absent Radii

Phocomelia

A close-up of the face of the same infant with the typical Potter facies associated with oligohydramnios and renal agenesis. Note the low-set abnormal ears, the flat nose, and micrognathia. Epicanthal folds were also present. Figure 1.26. Radiograph of the lower extremities of the same infant with sirenomelia shows the presence of two separate femora with fusion of soft tissue, two separate tibiae, and a single fibula distally. Skeletal deficiencies may be longitudinal defects...

Caudal Regression Syndrome

Abnormal Facies With Epicanthal Folds

Radiograph of the lower extremities of the same infant. Note the abnormal development of the pelvis due to the lumbosacral agenesis, the thin, poorly developed bones and lack of muscle mass. This is due to lack of fetal movement and resulting arthrogryposis. Figure 1.14. An asymmetric form of the caudal regression syndrome and hypoplastic left lower extremity associated with hypopla-sia of muscles and sciatic nerve on the left Figure 1.14. An asymmetric form of the caudal...