The propositus, a 25-year-old woman, presented
with brachydactyly and ectrodactyly of the feet, metacarpal and phalangeal
hypoplasia, and aplasia or hypoplasia of the fibula. A second cousin
demonstrated only milder acromelic defects. A similar pattern of variable
skeletal deformities was described in seven members of an unrelated Italian
family. No other major defects were noted. Radiologic examination showed
hypoplasia of ulnae, styloid processes, metacarpal bones, and phalanges. The
femora were normal, but the fibulae were replaced by retrotibial rudiments
and the tibiae were hypoplastic. The tarsal bones were fused and the
metatarsal bones and proximal phalanges grossly deformed.