388389

Caudal Regression Syndrome

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....

Ellis Van Creveld Syndrome

Ellis Van Creveld Syndrome

This infant with Ellis-van Creveld syndrome demonstrates on the left the fusion of the labiogingival margins so there is no sulcus to the upper lip. Also note the hypoplastic neonatal teeth in the upper jaw. On the right, note the hypoplastic neonatal teeth in the lower jaw. Neonatal teeth are present in 30 of infants with Ellis-van Creveld syndrome. Figure 2.45. This infant with Ellis-van Creveld syndrome demonstrates on the left the fusion of the labiogingival margins so there is...

3162

Female Genitalia Deformity

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).

Syndrome De Smith Lemli Opitz Images

Smith Lemli Opitz Syndrome

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...

3123

Female Genitalia Deformity

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...

Syndrom Noonan Bilder

Musculoskeletal Disorders

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...

369

Musculoskeleltal Disorders

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...

453

Muskeletal Disease

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...

3192

Ergonomics Cartoon Pic

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...

3105

Musculoskeletal Disorders The Stomach

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...

332

Joint Hyperextensibility

Contrast study in the same infant as in Figure 3.30 showing the massive hydroureter. Figure 3.32. This infant with Ehlers-Danlos syndrome (cutis hyperelastica) presented at birth with marked hypotonia, joint hypermobility, and hyperextensibility of the skin. Note the epican-thal folds. Figure 3.32. This infant with Ehlers-Danlos syndrome (cutis hyperelastica) presented at birth with marked hypotonia, joint hypermobility, and hyperextensibility of the skin. Note the epican-thal...

Small Penile Syndrome Pictures

Small Penile Syndrome Pictures

In this infant with Ellis-van Creveld syndrome, note on the left the short upper lip with midline defect due to fusion of the upper lip to the maxil-lary-gingival margin. On the right, note that the fusion of the upper lip to the maxillary-gingival margin results in a lack of the mucobuccal fold or sulcus which normally is present anteriorly. Figure 2.44. In this infant with Ellis-van Creveld syndrome, note on the left the short upper lip with midline defect due to fusion of the...

Brushfield Spots And Zellweger

Simian Crease

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...

Nail Diseases And Disorders

Hypoplastic Toenails

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...

Broard Nose Bridge

Wide Nasal Bridge Babies

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...

Baby With Low Set Ears

Midline Cleft Lip Palate

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...

Mild Microcephaly

Ergonomics Cartoon Pic

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...

Mickey Mouse Pelvis

Musculoskeletal Disorders

The gap between the first and second toes sandal or thong sign is a typical finding in trisomy 21. The feet are broad and short. The plantar surfaces are creased with a deep long furrow ape-line between the first and second toes. Figure 4.56. A close-up view of the broad short foot of an infant with trisomy 21 shows the marked separation of the first and second toes and the deep furrows on the sole. Figure 4.56. A close-up view of the broad short foot of an infant with trisomy 21...

Russell-silver Syndrome

Images Russell Silver Syndrome

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...

Fertility Disorders

Diseases Natal Cleft

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...

3147

Popliteal Pterygium

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...

36

Musculoskeletal Disorder

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...

Blue Toe Syndrome

Curly Toe Syndrome

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...

380

Flat Warts Forehead

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....

248

Asphyxiating Thoracic Dystrophy

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...

Genital Abnormalities

Female Genitalia Deformity

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...

Female Genital Deformity

Female Genital Abnormalities

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...

232

Penis Abnormalities

This infant has a rare form of short-limbed dwarfism. The diagnosis is anisospondylic camptomicromelic dwarfism dyssegmental dwarfism . This condition is autosomal recessive, there is disproportionate short stature, flat facies, flat nose and micrognathia. Cleft palate is common. There is a short neck and narrow thorax with short bent extremities and decreased joint mobility. A radiograph of the spine is diagnostic in that there are short vertebral bodies with segmentation defects....

Photos Of Infants With Marfan

Infants With Marfan Syndrome

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...

Osteogenesis Imperfecta Type Ii

Musculoskeletal Pain Rsi

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...

Dysmorphic Features In Babies

Fetal Thin Ribs

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...

Penis Head Close Up

Infant Penis Skin Bridge

Another example of an infant with thanatophoric dysplasia. Note the hypotonia, large head, narrow diorax due to short ribs, prominent abdomen, and markedly shortened extremities. These infants with their large head and micromelia may be mistakenly diagnosed as having achondroplasia. Figure 2.93. A close-up of the face of the same infant showing the large head, prominent forehead, hypertelorism, and flat nasal bridge. Note the narrow chest and short upper extremity with...

3171

Lower Phocomelia

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...

Preface

I first became attracted to the idea of producing a color atlas of neonatology many years ago. However, the impetus to synthesize my experience and compile this current collection was inspired by the frequent requests from medical students, pediatric house staff, nurses and others to provide them with a color atlas of the clinical material provided in my slide shows. For the past few decades I have used the medium of color slides and radiographs as a teaching tool. In these weekly slide shows...

Genitalia Deformities

Infant Genitalia Abnormalities

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...

393

Lowe Syndrome And Cataract

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....

Micrognathia In Newborns

Micrognathia

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...

Upslanting Palpebral Fissures Images

Upslanting Palpebral Fissures

Figure of die same infant showing die webbing of die neck and hyperextensibility of die skin. The elasticity of die skin allows it to stretch and recoil, whereas in cutis laxa the skin hangs down in loose folds and does not recoil, and die joints are not hyperextensible as is seen in Ehlers-Danlos syndrome. Figure 3.34. In the same infant note the hyperex-tensibility of the skin and the mild skin defects. There may be flat scars with paper-thin scar tissue, and hematomas occur...

Vaginal Hypoplasia

Upslanting Palpebral Fissures

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...

Lobster Claw Syndrome

Cornelia Lange Syndrome Infant

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...

1st Branchial Arch Syndrome

Types Branchial Cleft Skin Tag

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...

387

Musculoskeletal Disorders

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...

Non Chromosomal Syndromes Associations and Sequences

Beckwith Wiedemann Syndrome

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...

220

Brachycephalic Skull Human

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....

Very Small Penis

Brachydactyly Birth Defect

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...

Marfan Syndrome Penis

Photo Four Toes The Foot

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.

Rocker Bottom Feet

Talipes Equinovarus

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 frequently associated with congenital hip dysplasia, neural tube defects, and neuromus-cular conditions. Figure 1.111. Talipes equinovarus congenital clubfoot in an infant with Poland's anomaly. Talipes equinovarus is frequently associated with congenital hip dysplasia, neural tube defects, and neuromus-cular conditions....

166

Cutaneous Syndactyly

Partial cutaneous syndactyly represents an incomplete separation of the fingers and occurs most commonly between the third and fourdi 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...

Cleidocranial Dysplasia

Stippling The Vertebrae

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...

Dwarfism Pictures

Musculoskeletal Long Bone

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...

1102

Congenital Absence Fibula

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...

Human Abnormalities

Low Circumference Head Birth

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 die 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...

Cornelia De Lange Syndrome

Phocomelia Thalidomide Baby

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...

Marfan Syndrome

Infant With Marfan Syndrome Pictures

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...

Trisomy Foot Disorders

Feet Trisomy

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...

Curly Toe Syndrome

Amyotonia 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...

Polydactyly Feet

Sole Creases Premature Infant

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...

Dwarfism

Conradi Hunermann Syndrome

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...

Caudal Regression Syndrome

Oligohydramnios Potter Facies

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...

162

Extra Digit Preaxial

Postaxial Polydactyly is most commonly seen in black infants where it occurs as an autosomal dominant trait. The Polydactyly may be noted as a nubbin of scar tissue, as a pedunculated mass attached by a small pedicle, or as a fully developed digit. Polydactyly may be preaxial, occurring at the thumb or big toe, or postaxial, arising on the ulnar aspect of the fifth finger or fibular aspect of die fifth toe. Central Polydactyly does occur but is extremely rare. The vast majority of...

Musculoskeletal Disorders

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...