| Literature DB >> 3717209 |
Abstract
Five family members with distal arthrogryposis in two generations are reported. Cleft lip and palate, micrognathia, ptosis, webbed neck, kyphoscoliosis, and short stature are seen in one or more affected family members. All individuals with distal arthrogryposis also have trismus. This family does not fit any of the recently proposed five subcategories of type II distal arthrogryposis, nor does it fit any other recognized autosomal dominant condition with distal contractures.Entities:
Mesh:
Year: 1986 PMID: 3717209 DOI: 10.1002/ajmg.1320240206
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299