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Am J Med Genet. 2002 Mar 15;108(3):235-40.

Familial digital arthropathy-brachydactyly.

Author information

  • 1Genetic Health Services Victoria, Royal Children's Hospital, Victoria, Australia. amord@cryptic.rch.unimelb.edu.au

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.

PMID:
11891693
[PubMed - indexed for MEDLINE]
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