Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: Case series and review of the literature

被引：7

作者：

Carter, Melissa T. ^{[1
]}

Blaser, Susan ^{[2
]}

Papsin, Blake ^{[3
]}

Meschino, Wendy ^{[4
]}

Reardon, Willie ^{[5
]}

Klatt, Regan ^{[1
]}

Babul-Hirji, Riyana ^{[1
]}

Milunsky, Jeff ^{[6
]}

Chitayat, David ^{[1
]}

机构：

[1] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

[2] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Neuroradiol, Toronto, ON M5G 1X8, Canada

[3] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Otolaryngol, Toronto, ON M5G 1X8, Canada

[4] N York Gen Hosp, Genet Program, Toronto, ON, Canada

[5] Our Ladys Hosp Sick Children, Dublin, Ireland

[6] Boston Univ, Sch Med, Ctr Human Genet, Boston, MA 02118 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 08期

关键词：

BOF syndrome; inner ear; middle ear; hemangioma; branchial arch; neural crest; temporal bone; computed tomography; BRANCHIOOTORENAL SYNDROME; PENDRED-SYNDROME; GENE;

D O I：

10.1002/ajmg.a.35436

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hearing impairment is common in individuals with branchio-oculo-facial (BOF) syndrome. The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the hearing impairment in BOF syndrome is increasingly being reported. Sophisticated computed tomography (CT) of the temporal bone has revealed middle and inner ear malformations in three previous reports. We present middle and inner ear abnormalities in three additional individuals with mutation-proven BOF syndrome. We suggest that temporal bone CT imaging be included in the medical workup of a child with BOF syndrome, in order to guide management. (C) 2012 Wiley Periodicals, Inc.

引用

页码：1977 / 1981

页数：5

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