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Familial digital arthropathy-brachydactyly

✍ Scribed by Amor, David J. ;Tudball, Coral ;Gardner, R.J. McKinlay ;Lamandé, Shireen R. ;Bateman, John F. ;Savarirayan, Ravi

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
219 KB
Volume
108
Category
Article
ISSN
0148-7299

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✦ Synopsis

Abstract

We report a large family with a previously undescribed, dominantly inherited condition comprising arthropathy of the hands and feet and progressive shortening of the middle and distal phalanges. We have designated the condition familial digital arthropathy‐brachydactyly (FDAB). Onset of FDAB is in the first decade and the arthropathy is progressive, resulting in deformity and pain in adult life. The remainder of the skeleton is not affected. It is hypothesized from the radiological appearance of patients at different ages that FDAB might result from subchondral pathology primarily affecting the heads of the phalanges, metacarpals, and metatarsals, with the arthropathy and brachydactyly being secondary effects. © 2002 Wiley‐Liss, Inc.

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We report on two families with autosomal dominant brachydactyly of hands and feet and hypertension. All affected members of the first family had proportionate short stature. However, the propositus and the affected relatives in the second family were only short compared to unaffected relatives. The