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范德赫夫-德克莱因综合征作为听力损失的罕见病因——两例病例报告

Van Der Hoeve-De Kleiyn'S syndrome as a rare cause of hearing loss - two case reports.

作者信息

Bhatia Shenny, Mehra Y N

机构信息

Deptt. ENT, 757, Sector 8-B, PGI, Chandigarh, India.

出版信息

Indian J Otolaryngol Head Neck Surg. 2003 Jul;55(3):188-90. doi: 10.1007/BF02991951.

Abstract

It is relatively rare, dominant form of syndrome characterized by combination of blue sclerae brittle banes and Hearing loss. One of the conditions may be absent. Two cases, one 22 year old mtde with UltUtgray selrae md the other a 25 year old female with blue sclerae presented to us with hearing loss. Family history of hearing toss and blue sclerae were positive.

摘要

它是一种相对罕见的显性综合征,其特征为蓝巩膜、脆性骨骼和听力丧失同时存在。其中一种情况可能不存在。我们接诊了两例患者,一例是22岁患有蓝巩膜的男性,另一例是25岁患有蓝巩膜的女性,他们都伴有听力丧失。听力丧失和蓝巩膜的家族史均呈阳性。

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本文引用的文献

1
The ear in osteogenesis imperfecta.成骨不全症中的耳部病变
Laryngoscope. 1962 Jul;72:855-69. doi: 10.1288/00005537-196207000-00002.
2
Hearing loss in children with osteogenesis imperfecta.成骨不全症患儿的听力损失
Eur J Pediatr. 2000 Jul;159(7):515-9. doi: 10.1007/s004310051322.
3
Stapes surgery in patients with osteogenesis imperfecta.
Ann Otol Rhinol Laryngol. 1984 Nov-Dec;93(6 Pt 1):634-5. doi: 10.1177/000348948409300618.

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