Reiss J A, Sheffield L J
Am J Med Genet. 1986 Jun;24(2):255-67. doi: 10.1002/ajmg.1320240206.
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.
报道了一个两代人中五名患有远端关节挛缩症的家庭成员。唇腭裂、小颌畸形、上睑下垂、蹼颈、脊柱后凸侧弯和身材矮小在一个或多个受影响的家庭成员中出现。所有患有远端关节挛缩症的个体也都有牙关紧闭症状。这个家系不符合最近提出的II型远端关节挛缩症的五个亚类中的任何一个,也不符合任何其他已确认的伴有远端挛缩的常染色体显性疾病。