非典型轴后性肢端颜面发育不全（AFD）：糖尿病胚胎病还是一种新的AFD综合征？

Atypical postaxial acrofacial dysostosis (AFD): diabetic embryopathy or a new AFD syndrome?

作者信息

Richieri-Costa A, Guion-Almeida M L

机构信息

Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, Bauru, Brazil.

出版信息

Am J Med Genet. 1989 Aug;33(4):450-2. doi: 10.1002/ajmg.1320330406.

DOI:10.1002/ajmg.1320330406

PMID:2596502

Abstract

We report on a Brazilian girl, born to a diabetic mother, and presenting with atypical pre/postaxial acrofacial dysostosis, nosologically related to the Genée-Wiedemann syndrome. Clinical and genetic aspects of this acrofacial dysostosis and its relationship to diabetic embryopathy are discussed.

摘要

我们报告了一名巴西女孩，其母亲患有糖尿病，该女孩表现为非典型的轴前/轴后肢端面部发育不全，在疾病分类学上与Genée-Wiedemann综合征相关。本文讨论了这种肢端面部发育不全的临床和遗传特征及其与糖尿病胚胎病的关系。