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全内脏反位与眼-耳-脊椎综合征相关。

Total situs inversus associated with the oculo-auriculo-vertebral spectrum.

作者信息

Maat-Kievit J A, Baraitser M, Winter R M

机构信息

Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.

出版信息

Clin Dysmorphol. 1994 Jan;3(1):82-6.

PMID:8205328
Abstract

A patient is reported with the association of the oculo-auriculo-vertebral spectrum and situs inversus. Conditions with overlapping features and previously reported conditions associated with the oculo-auriculo-vertebral spectrum are reviewed. These conditions, as well as the reported association of the oculo-auriculo-vertebral spectrum and situs inversus can probably be seen as a part of the mesodermal malformation spectrum, due to an early abnormality in the development of the primitive streak or embryonic mesoderm.

摘要

报告了一名患有眼-耳-脊椎谱系综合征并伴有内脏反位的患者。对具有重叠特征的疾病以及先前报道的与眼-耳-脊椎谱系综合征相关的疾病进行了综述。由于原条或胚胎中胚层发育早期出现异常,这些疾病以及所报道的眼-耳-脊椎谱系综合征与内脏反位的关联,可能被视为中胚层畸形谱系的一部分。

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