一种新的遗传性畸形综合征，具有特殊面容、骨骼畸形以及肌肉骨骼和感觉缺陷。

New hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects.

作者信息

Middleton L T, Anastasiades V, Panayidou K, Georghiou D, Kalli E, Gabriel G, Myrianthopoulos N C

机构信息

Cyprus Institute of Neurology and Genetics, Nicosia.

出版信息

Am J Med Genet. 1992 Dec 1;44(6):757-61. doi: 10.1002/ajmg.1320440609.

DOI:10.1002/ajmg.1320440609

PMID:1481843

Abstract

We report on a new syndrome characterized by specific and striking facial abnormalities, arthrogrypotic skeletal deformities, and neuromuscular and sensory defects in a large Greek Cypriot family. The hereditary transmission appears to be autosomal dominant with quite variable expressivity.

摘要

我们报告了一个新的综合征，其特征为一个大型塞浦路斯希腊裔家族中存在特定且显著的面部异常、关节挛缩性骨骼畸形以及神经肌肉和感觉缺陷。遗传传递似乎为常染色体显性，表现度差异较大。