外胚层发育异常：临床分类与病因学综述

Ectodermal dysplasias: a clinical classification and a causal review.

作者信息

Pinheiro M, Freire-Maia N

机构信息

Department of Genetics, Federal University of Paraná, Curitiba, Brazil.

出版信息

Am J Med Genet. 1994 Nov 1;53(2):153-62. doi: 10.1002/ajmg.1320530207.

DOI:10.1002/ajmg.1320530207

PMID:7856640

Abstract

We present a casual review of 154 ectodermal dysplasias (EDs) as classified into 11 clinical subgroups. The number of EDs in each subgroup varies from one to 43. The numbers of conditions due to autosomal dominant, autosomal recessive, and X-linked genes are, respectively, 41, 52, and 8. In 53 conditions cause is unknown; 35 of them present some causal (genetic) suggestion.

摘要

我们对154种外胚层发育异常（EDs）进行了简要综述，这些异常被分为11个临床亚组。每个亚组中EDs的数量从1到43不等。由常染色体显性、常染色体隐性和X连锁基因导致的病症数量分别为41、52和8。在53种病症中，病因不明；其中35种有一些因果（遗传）提示。