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Distal arthrogryposis type 1: Clinical analysis of a large kindred

✍ Scribed by Bamshad, Michael; Bohnsack, John F.; Jorde, Lynn B.; Carey, John C.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 433 KB
Volume: 65
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961111)65:4<282::aid-ajmg7>3.0.co;2-r

No coin nor oath required. For personal study only.

✦ Synopsis

W e describe the clinical findings of 15 individuals in a large kindred affected with distal arthrogryposis type 1A (DAlA). The most consistent findings among individuals were overlapping fingers at birth, abnormal digital flexion creases, and foot deformities, including talipes equinovarus and vertical talus. There was marked intrafamilial variation in the expression of DAlA. Linkage mapping of the locus for DAlA suggests that the use of strict diagnostic criteria excludes unaffected individuals rigorously, but can produce incomplete ascertainment of affected individuals. In the context of an affected family, the range of phenotypes consistent with a diagnosis of DAlA needs to be expanded.

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