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Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia
Author(s) -
Beals Rodney K.,
Weleber Richard G.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30289
Subject(s) - arthrogryposis , abnormality , muscle contracture , medicine , ptosis , anatomy , surgery , psychiatry
Abstract A four‐generation family with distal arthrogryposis 5 is described. All affected members had limitations of ocular motility and some had ptosis. Restrictive lung disease is a feature in most affected patients in this family. It is possible that this syndrome may be due to a muscle abnormality. © 2004 Wiley‐Liss, Inc.