Familial distal arthrogryposis with craniofacial abnormalities: A new subtype of type II?

✍ Scribed by Moore, Cynthia A. ;Weaver, David D.

• Book ID: 102701004
• Publisher: John Wiley and Sons
• Year: 1989
• Tongue: English
• Weight: 697 KB
• Volume: 33
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320330218

✦ Synopsis

We report on 5 relatives in 3 generations with an apparent new type of distal arthrogryposis. These individuals have manifestations of type I distal arthrogryposis, but in addition, have craniofacial anomalies that include facial asymmetry, hypertelorism, downslanting palpebral fissures, high nasal bridge, malar hypoplasia, micrognathia, highly arched palate, notched chin, and posteriorly angulated ears. Their intelligence is normal. Although these manifestations preclude us from placing this family in the type I (isolated) distal arthrogryposis category, we also are unable to place them in any of the recognized subtypes of type I1 distal arthrogryposis. Thus, we think this family may have a previously undescribed form of autosomal dominant type I1 distal arthrogryposis.