Ohdo S, Hirayama K, Terawaki T
J Med Genet. 1983 Feb;20(1):52-7. doi: 10.1136/jmg.20.1.52.
We report five patients with ectodermal dysplasia, ectrodactyly associated with syndactyly or cleft hand or both, and, in addition, macular dystrophy which was presumed to be progressive, in an isolated population on a remote island in Japan. The heredity of this syndrome was thought to be autosomal recessive. Three cases have been reported so far with a combination of the same abnormalities. The parents in these cases were consanguineous.
我们报告了5例患有外胚层发育不良、并指或裂手或两者皆有的缺指畸形，此外还患有黄斑营养不良（推测为进行性）的患者，他们来自日本一个偏远岛屿上的孤立人群。这种综合征的遗传方式被认为是常染色体隐性遗传。迄今为止，已有3例报告了相同异常的组合情况。这些病例中的父母均为近亲结婚。
