Genetic disorder resulting in complex dysostosis
with distal limb deformities.
Only two case reports with a
total of nine possible affected individuals have been described. Postulated
to be autosomal dominant inheritance with low penetrance and variable
expressivity, although the exact pattern of inheritance is rather complex and not fully understood.
The reported cases have been from two unrelated Italian
families with no history of consanguinity.
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.
Venous access may be difficult because
of limb deformities. Careful padding is required.
Du Pan Syndrome: a genetic disorder characterized by complex brachydactyly and
Schinzel Syndrome: an inherited disorder characterized by bone malformations and apocrine
Genuardi M, Zollino M, Bellussi A, et al: Brachy-ectrodactyly and
absence or hypoplasia of the fibula: An autosomal dominant condition with
low penetrance and variable expressivity. Clin Genet
Lewin SO, Opitz JM: Fibular a/hypoplasia: Review and documentation of the
fibular developmental field. Am J Med Genet Suppl
Evans JA, Reed MH, Greenberg CR: Fibular aplasia with ectrodactyly. Am J Med