Emberger syndrome: A rare association with hearing loss

被引：3
|
作者：
Zawawi, Faisal [1 ,2 ]
Sokolov, Meirav [1 ,2 ,3 ]
Mawby, Thomas [1 ,2 ]
Gordon, Karen A. [2 ,3 ,4 ]
Papsin, Blake C. [1 ,2 ,3 ]
Cushing, Sharon L. [1 ,2 ,3 ]
机构：
[1] Hosp Sick Children, Dept Otolaryngol Head & Neck Surg, 555 Univ Ave,Room 6130, Toronto, ON M5G 1X8, Canada
[2] Univ Toronto, Dept Otolaryngol Head & Neck Surg, Toronto, ON, Canada
[3] Hosp Sick Children, Archies Cochlear Implant Lab, Toronto, ON, Canada
[4] Hosp Sick Children, Dept Commun Disorders, Toronto, ON, Canada
来源：
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2018年 / 108卷
关键词：
Hearing loss; Emberger; Bone marrow transplant; Cutaneous; SPORADIC MONOCYTOPENIA; AUTOSOMAL-DOMINANT; GATA2;
D O I：
10.1016/j.ijporl.2018.02.014
中图分类号：
R76 [耳鼻咽喉科学];
学科分类号：
100213 ;
摘要：
Emberger Syndrome (ES) is a rare genetic disorder characterized by lymphedema and myelodysplasia. It is also associated with hearing loss. The genetic mutations associated with ES are not part of the comprehensive 80 gene next generation sequencing (NGS) panel. As a result, the otolaryngologist should maintain an index of suspicion for ES in any child with SNHL who presents repeatedly with recurrent infections, lymphedema and/or cutaneous warts. This paper describes the clinical evolution and management of two children who were followed up for hearing loss and eventually were diagnosed with ES.
引用
收藏
页码：82 / 84
页数：3
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