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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...
f
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 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
Figure 1.25. 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
Figure 1.79. 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...
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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 1.126. 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...
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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...
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...
Caudal Regression Syndrome
Figure 1.13. 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...
Ellis Van Creveld Syndrome
Figure 1.68. This infant with Apert's syndrome acrocephalosyndactyly shows symmetric syndactyly of bodi 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 bodi hands. In Apert's syndrome, total syndactyly may involve the full length of the hands or feet. They appear...
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Figure 1.61. 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
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...