Meinecke P, Passarge E
Dtsch Med Wochenschr. 1978 Oct 20;103(42):1660, 1663-5. doi: 10.1055/s-0028-1129318.
The autosomal dominant hereditary syndrome of symphalangism and stapes fixation consists of multiple synostoses, most frequently symphalangism, in addition to synostoses of carpal and tarsal bones and radio-ulnar synostoses, various other malformations of the limbs (restricted joint movement or syndactylism) and variable degrees of conduction disorders due to stapes fixation, starting in childhood. A family tree of four successive generations with various forms of the syndrome is described.
常染色体显性遗传的并指(趾)畸形和镫骨固定综合征包括多处关节融合,最常见的是并指(趾)畸形,此外还有腕骨和跗骨的关节融合以及桡尺关节融合、四肢的各种其他畸形(关节活动受限或并指畸形),以及由于镫骨固定导致的不同程度的传导障碍,起病于儿童期。本文描述了一个具有该综合征多种形式的四代连续家系。