Craniometaphyseal dysplasia: a case report and review of medical and surgical management

被引:12
|
作者
Sheppard, WM [1 ]
Shprintzen, RJ [1 ]
Tatum, SA [1 ]
Woods, CI [1 ]
机构
[1] SUNY Upstate Med Univ, Dept Otolaryngol, Communicatie Disorders Unit, Syracuse, NY 13210 USA
关键词
craniometaphyseal dysplasia sporadic; skeletal dysplasia; osteochondrodysplasia; pediatric; otolaryngology; calcitonin; calcitriol; craniofacial surgery; otologic surgery; pathogenesis;
D O I
10.1016/S0165-5876(02)00289-6
中图分类号
R76 [耳鼻咽喉科学];
学科分类号
100213 ;
摘要
Craniometaphyseal dysplasia CMD is a genetic syndrome inoling cranial and tubular bone anomalies that commonly present at a young age, often with otolaryngologic manifestations. In this paper, we report a rare case of a sporadic form of the disease resulting in an early state of hypocalcemia with secondary hyperparathyroidism. A conductie hearing loss is also documented prior to 12 months of age. The clinical aspects of CMD will be coered along with its pathogenesis. The current concepts surrounding medical and surgical treatments will be reviewed, and the management of our patient will be discussed. 2002 Elseier Science Ireland Ltd. All rights reserved.
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页码:71 / 77
页数:7
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