戈尔茨综合征与范·艾伦-迈尔综合征的可能同一性：来自表型演变的证据。

Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.

作者信息

Hancock Susan, Pryde Peter, Fong Christine, Brazy Jane E, Stewart Katharina, Favour Amy, Pauli Richard M

机构信息

Department of Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin 53705, USA.

出版信息

Am J Med Genet. 2002 Jul 15;110(4):370-9. doi: 10.1002/ajmg.10456.

DOI:10.1002/ajmg.10456

PMID:12116212

Abstract

We describe a girl who was diagnosed with split foot-split hand anomaly prenatally, in whom at birth the diagnosis of Van Allen-Myhre syndrome was made, and who at 8 months of age was recognized to have Goltz syndrome. Based on the evolution of clinical features in this infant, we suggest that our case, as well as that reported by Van Allen and Myhre, is an example of unusually severe Goltz syndrome.

摘要

我们描述了一名在产前被诊断为裂足-裂手畸形的女孩，出生时被诊断为范·艾伦-迈尔综合征，8个月大时被确诊患有戈尔茨综合征。基于该婴儿临床特征的演变，我们认为我们的病例以及范·艾伦和迈尔报道的病例是异常严重的戈尔茨综合征的例子。