里氏-科斯塔-佩雷拉肢端面部发育不全综合征中的喉部畸形：两例新病例描述
Laryngeal malformation in the Richieri-Costa-Pereira acrofacial dysostosis: description of two new patients.
作者信息
Tabith Alfredo, Bento-Gonçalves Cristina Guedes de Azevedo
机构信息
Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brazil.
出版信息
Am J Med Genet A. 2003 Oct 1;122A(2):133-8. doi: 10.1002/ajmg.a.10227.
PMID:12955765
Abstract
We describe laryngeal malformations and voice disorders in two new patients with the autosomal recessive Richieri-Costa and Pereira form of acrofacial dysostosis. This report confirms the data on the first five patients we had already presented in 1996.
摘要
我们描述了两名患有常染色体隐性遗传的里氏-科斯塔和佩雷拉型肢端面部发育不全的新患者的喉部畸形和嗓音障碍。本报告证实了我们在1996年已报告的首批5例患者的数据。
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