无缺指（趾）畸形的EEC综合征？8例报告。

EEC syndrome without ectrodactyly? Report of 8 cases.

作者信息

Küster W, Majewski F, Meinecke P

出版信息

Clin Genet. 1985 Aug;28(2):130-5. doi: 10.1111/j.1399-0004.1985.tb00372.x.

DOI:10.1111/j.1399-0004.1985.tb00372.x

Abstract

Eight cases are presented from two families with a variable manifestation of the EEC syndrome. In the first family only one of three affected persons suffers from limb defects. In the second family all five affected have a different pattern of symptoms and only two of them show limb defects. The described families as well as at least one literature report confirm that ectrodactyly is not an obligate symptom of the EEC syndrome.

摘要

本文报告了来自两个家庭的8例患有EEC综合征且症状表现各异的病例。在第一个家庭中，三名患者中只有一人患有肢体缺陷。在第二个家庭中，五名患者都有不同的症状模式，其中只有两人有肢体缺陷。所描述的这些家庭以及至少一篇文献报告证实，缺指（趾）畸形并非EEC综合征的必然症状。