耳-甲-腓骨综合征：一种综合征的确证

Oto-onycho-peroneal syndrome: confirmation of a syndrome.

作者信息

Devriendt K, Stoffelen D, Pfeiffer R, Leys A, Fryns J P

机构信息

Centre for Human Genetics, University Hospital Leuven, Belgium.

出版信息

J Med Genet. 1998 Jun;35(6):508-9. doi: 10.1136/jmg.35.6.508.

DOI:10.1136/jmg.35.6.508

PMID:9643295

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051348/

Abstract

We report two sibs with a similar syndrome of abnormal external ears, peculiar facial features, nail hypoplasia, a bilateral fibrous fusion of the outer third of the clavicle and the scapular spine, and the absence of a normal acromioclavicular joint. The present patients represent the fourth and fifth cases of the oto-onycho-peroneal syndrome (MIM 259780).

摘要

我们报告了两名患有相似综合征的同胞，其特征包括外耳异常、特殊面容、指甲发育不全、双侧锁骨外三分之一与肩胛冈纤维性融合，以及肩锁关节缺如。目前这两名患者代表了耳-甲-腓骨综合征（MIM 259780）的第四和第五例。