全内脏反位伴颅骨骨干发育异常：一种新综合征？

Situs inversus totalis with accompanying craniodiaphysial dysplasia: a new syndrome?

作者信息

Ozturk Serdar, Zor Fatih, Coskun Unsal, Gul Davut, Duzgun Serdar, Sengezer Mustafa

机构信息

Department of Plastic and Reconstructive Surgery, Gulhane Military Medical Academy, Ankara, Turkey.

出版信息

J Craniofac Surg. 2004 Sep;15(5):865-9. doi: 10.1097/00001665-200409000-00032.

DOI:10.1097/00001665-200409000-00032

PMID:15346034

Abstract

A 20-year-old man with craniofacial anomalies of craniodiaphysial dysplasia (CDD), facial paralysis, mental retardation, and situs inversus totalis is described. Similar features except situs inversus totalis are also present in two of his sisters. The authors believe this to be the first reported case of CDD with accompanying situs inversus totalis.

摘要

本文描述了一名20岁男性，患有颅骨骨干发育异常（CDD）的颅面畸形、面瘫、智力障碍和全内脏转位。他的两个姐妹也有类似特征，只是没有全内脏转位。作者认为这是首例报道的伴有全内脏转位的CDD病例。