Nager Syndrome: A Case Report

被引:12
|
作者
Lin, Ju-Li [1 ]
机构
[1] Chung Gung Univ, Coll Med, Chang Gung Mem Hosp, Div Med Genet,Dept Pediat, Tao Yuan, Taiwan
来源
PEDIATRICS AND NEONATOLOGY | 2012年 / 53卷 / 02期
关键词
micrognathia; Nager syndrome; preaxial acrofacial dysostosis; tracheostomy; ACROFACIAL DYSOSTOSIS; TRANSMISSION; MANAGEMENT;
D O I
10.1016/j.pedneo.2012.01.014
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Nager syndrome (preaxial acrofacial dysostosis) is rare and mostly sporadic. We present a case of Nager syndrome in Taiwan. Craniofacial findings included micrognathia, malar hypoplasia, downslanting palpebral fissures, cleft palate, and ear anomalies. Radial defects consisted of hypoplastic thumb, short forearm, and proximal radioulnar synostosis. Patent ductus arteriosus, atrial septal defect, lower limb deformities, and uncommon flat nasal bridge were noted. Nasal endotube passing through a narrowing oropharynx region or oral airway is life-saving before tracheostomy is performed on patients with Nager syndrome and restricted jaw opening and glossoptosis. Copyright (C) 2012, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. All rights reserved.
引用
收藏
页码:147 / 150
页数:4
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