Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia

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. (C) 2004 Wiley-Liss, Inc.