伴有半侧鼻发育不全及眼部异常的新认识综合征，还是半侧鼻发育不全/非典型腭裂综合征的更广泛谱系？

Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?

作者信息

Guion-Almeida Maria Leine, Machado-Paula Ligiane Alves, Richieri-Costa Antonio

机构信息

Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil.

出版信息

Am J Med Genet A. 2004 Aug 30;129A(2):156-61. doi: 10.1002/ajmg.a.30153.

DOI:10.1002/ajmg.a.30153

PMID:15316972

Abstract

We report on five unrelated Brazilian patients with heminasal aplasia associated with diverses anomalies, including lateral proboscis, and anomalies of the eye and first branchial arch. We suggest that these patients represent different conditions within the spectrum of the heminasal aplasia malformation. Clinical, genetic, and differential diagnosis are discussed.

摘要

我们报告了五例互不相关的巴西患者，他们患有半侧鼻发育不全，并伴有多种异常情况，包括侧鼻吻突、眼部异常和第一鳃弓异常。我们认为这些患者代表了半侧鼻发育不全畸形谱系中的不同病症。文中还讨论了临床、遗传及鉴别诊断。