JS']JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance

被引：4

作者：

Hoeve, Hans W. ^{[1
]}

Brooks, Alice S. ^{[2
]}

Smit, Liesbeth S. ^{[3
,4
]}

机构：

[1] Erasmus MC Sophia, Dept Otorhinolaryngol, Rotterdam, Netherlands

[2] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

[3] Subdivis Pediat Neurol, Dept Neurol, Amsterdam, Netherlands

[4] Erasmus MC Sophia, Dept Paediat Subdivis Neonatol, Rotterdam, Netherlands

来源：

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2015年 / 79卷 / 07期

关键词：

Multiple congenital malformation; Vocal cord paralysis; Ear; Hearing loss; Facial dysmorphism; Shoulder musculature; STAPES FIXATION; FOLD PARALYSIS; MUTATIONS; ANOMALIES; SPECTRUM; DISEASE; INCUS; GENE;

D O I：

10.1016/j.ijporl.2015.05.001

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

引用

页码：1164 / 1170

页数：7