Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case.

Abstract

Distal arthrogryposis IIB is characterized by contractures of the distal joints (especially of the fingers and toes) and ptosis. We recently encountered a father and son with these manifestations. The father was reported 54 years ago as a case of amyoplasia congenita (arthrogryposis multiplex congenita). Both father and son have distal joint contractures, most severe in the hands and feet, as well as ptosis and ophthalmoplegia. In addition, these patients have an unusual distribution of hair loss, and conical teeth. Whether these latter findings are related to the type of distal arthrogryposis present in this family is not known. In spite of their physical limitations both father and son have maintained an active life-style.

• Authors: B D Friedman, R A Heidenreich
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 58 Issue 2 Pg. 125-7 (Aug 28 1995) ISSN: 0148-7299 [Print] United States
• PMID: 8533802 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Arthrogryposis (genetics)
• Follow-Up Studies
• Hair (abnormalities)
• Humans
• Male
• Middle Aged
• Tooth Abnormalities (genetics)