散发性泪腺-耳-牙-指综合征中的内耳发育异常。病例报告及文献复习。
Inner ear dysplasia in sporadic lacrimo-auriculo-dento-digital syndrome. A case report and review of the literature.
作者信息
Meuschel-Wehner Stephanie, Klingebiel Randolf, Werbs Mechthild
机构信息
Department of Otorhinolaryngology, Charité, Campus Mitte, Humboldt University, Schumannstrasse 20/21, D-10098 Berlin, Germany.
出版信息
ORL J Otorhinolaryngol Relat Spec. 2002 Sep-Oct;64(5):352-4. doi: 10.1159/000066077.
The lacrimo-auriculo-dento-digital (LADD) syndrome is a rare inherited disorder affecting the lacrimal, auricular, salivary, and osseous system. Only very limited data on LADD associated petrous bone lesions are available up to now. We describe a young girl suffering from the LADD syndrome with sensorineural hearing loss and inner ear dysplasia. This case suggests, that inner ear dysplasia might be a more common feature of the LADD syndrome than has been assumed so far.
泪腺-耳-齿-指（LADD）综合征是一种罕见的遗传性疾病，会影响泪腺、耳部、唾液腺和骨骼系统。到目前为止，关于LADD相关岩骨病变的资料非常有限。我们描述了一名患有LADD综合征的年轻女孩，伴有感音神经性听力损失和内耳发育异常。该病例表明，内耳发育异常可能是LADD综合征比迄今所认为的更为常见的特征。
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