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Genetic disorder resulting in complex dysostosis with distal limb deformities.

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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.

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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.

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Venous access may be difficult because of limb deformities. Careful padding is required.

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Du Pan Syndrome: a genetic disorder characterized by complex brachydactyly and fibular hypoplasia.

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Schinzel Syndrome: an inherited disorder characterized by bone malformations and apocrine deficiency.

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 38:321, 1990.  [PubMed: 2178076]
Lewin SO, Opitz JM: Fibular a/hypoplasia: Review and documentation of the fibular developmental field. Am J Med Genet Suppl 2:215, 1986.  [PubMed: 3146293]
Evans JA, Reed MH, Greenberg CR: Fibular aplasia with ectrodactyly. Am J Med Genet 113:52, 2002.  [PubMed: 12400066]

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