一个患有进行性骨化性纤维发育不良的三代家族。

Connor J M, Skirton H, Lunt P W

Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.

J Med Genet. 1993 Aug;30(8):687-9. doi: 10.1136/jmg.30.8.687.

A family with five persons affected with fibrodysplasia ossificans progressiva (myositis ossificans progressiva) in three generations is described. This is the first well documented three generation family with this condition and provides further evidence for autosomal dominant inheritance. A wide range of phenotypic severity is apparent, from disabling ectopic bone formation and premature death to an asymptomatic adult with characteristic big toe malformations.

本文描述了一个三代人中五人患进行性骨化性纤维发育不良（进行性骨化性肌炎）的家族。这是首个有充分记录的患此病的三代家族，为常染色体显性遗传提供了进一步证据。从致残性异位骨形成和过早死亡到有典型大脚趾畸形的无症状成年人，该家族的表型严重程度范围很广。