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[III型尖头并指(趾)畸形(塞特雷-乔岑综合征)。2例病例描述]

[Type-III acrocephalosyndactylia (Saethre-Chotzen syndrome). Description of 2 cases].

作者信息

Gabrielli O, Moroni E, Barbato M, Pierleoni C, Felici L

出版信息

Pathologica. 1989 May-Jun;81(1073):295-300.

PMID:2641541
Abstract

The acrocephalosyndactylia III is a syndrome, which follows an autosomal dominant mode of inheritance, characterized by premature fusion of the cranial sutures in association with mild cutaneous syndactyly. The authors describe two cases recently come to their observation and point out the usefulness of the imaging diagnostics (CT, MRI) in finding anomalies specific of this affection.

摘要

尖头并指畸形III型是一种遵循常染色体显性遗传模式的综合征,其特征为颅缝过早融合并伴有轻度皮肤并指。作者描述了最近观察到的两例病例,并指出影像学诊断(CT、MRI)在发现该病症特异性异常方面的作用。

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