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[安特利-比克斯勒综合征。文献综述。关于一例个人病例]

[The Antley-Bixler syndrome. Review of the literature. Apropos of a personal case].

作者信息

Robert E, Bethenod M, Bourgeois J

出版信息

J Genet Hum. 1984 Sep;32(4):291-8.

PMID:6491640
Abstract

A female newborn presenting multiple congenital anomalies with acrocephalosynanky, external auditory canals atresia, vertebral anomalies, is described as being affected of an Antley-Bixler Syndrome. The authors compare this case with the eight others reported with this disorder, of whom two are sisters.

摘要

一名患有尖头并指(趾)畸形、外耳道闭锁、脊椎异常等多种先天性异常的女新生儿被诊断为患有安特利-比克斯勒综合征。作者将该病例与其他八例报道的该疾病病例进行了比较,其中两例是姐妹。

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