A case of Schwartz-Jampel syndrome with cleft palate

被引：5
|
作者：
Abdel-Aziz, Mosaad [1 ]
Azab, Noha A. [2 ]
机构：
[1] Cairo Univ, Dept Otolaryngol, Fac Med, Cairo, Egypt
[2] Cairo Univ, Dept Rheumatol & Rehabil, Fac Med, Cairo, Egypt
来源：
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2009年 / 73卷 / 11期
关键词：
Schwartz-Jampel syndrome; Chondrodystrophic myotonia; Cleft palate; Palatoplasty; SYNDROME CHONDRODYSTROPHIC MYOTONIA; PERLECAN; ACETYLCHOLINESTERASE; LOCI; 1P36;
D O I：
10.1016/j.ijporl.2009.08.012
中图分类号：
R76 [耳鼻咽喉科学];
学科分类号：
100213 ;
摘要：
Schwartz-Jampel syndrome is a rare inherited autosomal recessive disorder characterized by generalized myotonia, joint contractures, skeletal abnormalities and facial dysmorphism. The gene defect involves the 1p34-p36.1 region of chromosome 1. Also, one of the candidate genes for orofacial clefting is the 1p36 region. Cleft palate is the most common congenital anomaly in the head and neck. Despite both diseases share a genetic defect in chromosome 1p36 region, the association of both conditions has not yet been investigated. Feeding problems due to the presence of the cleft may add to the growth retardation that is already present in those patients, so palatoplasty is mandatory. We described a case of Schwartz-Jampel syndrome with cleft palate. (C) 2009 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码：1601 / 1603
页数：3
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