MacDermot K D, Winter R M
Am J Med Genet. 1987 Jun;27(2):313-9. doi: 10.1002/ajmg.1320270209.
We report on a family in which a mother and her 2 offspring presented with bilateral radial defects and absent thumbs. In addition, Duane anomaly was present in both offspring, one of whom also had anal stenosis. Clinical investigation showed no skeletal, cardiac, or urogenital abnormalities. Autosomal dominant transmission of radial defects is suggested, with Duane anomaly and anal stenosis representing manifestations of the same gene.
我们报告了一个家族，其中一位母亲和她的两个后代出现双侧桡骨缺损且拇指缺如。此外，两个后代均存在杜安眼球后退综合征，其中一人还患有肛门狭窄。临床检查未发现骨骼、心脏或泌尿生殖系统异常。提示桡骨缺损为常染色体显性遗传，杜安眼球后退综合征和肛门狭窄是同一基因的表现形式。
