Delrue M A, Lacombe D
Department of Medical Genetics, Pellegrin-Children's Hospital, Bordeaux, France.
Genet Couns. 2002;13(3):319-25.
Ectrodactyly and phocomelia are well known limbs malformations. They can be a part of various syndromes, and are more often transmitted with dominant autosomal Inheritance with variable expression and Incomplete penetrance. Different loci have been Identified for ectrodactyly (SHFM1 at 7q21.3q22.1, SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27), and two genes are known (DSS1 for SHFM1, p63 for SHFM4). We report the case of a 33 year-old female affected with the association of ectrodactyly and phocomelia. It could be a "new" association, or a mild or partial expression of the syndrome Including ectrodactyly, phocomelia, deafness and sinusal arythmia.
缺指（趾）畸形和短肢畸形是众所周知的肢体畸形。它们可能是各种综合征的一部分，且更常通过常染色体显性遗传传递，具有可变表达和不完全外显率。已确定了不同的缺指（趾）畸形相关基因座（7q21.3q22.1处的SHFM1、Xq26处的SHFM2、10q24q25处的SHFM3、3q27处的SHFM4），已知两个相关基因（SHFM1的DSS1、SHFM4的p63）。我们报告了一例33岁女性患缺指（趾）畸形合并短肢畸形的病例。这可能是一种“新”的关联，或者是包括缺指（趾）畸形、短肢畸形、耳聋和窦性心律失常在内的综合征的轻度或部分表现。
