Sheppard William M, Shprintzen Robert J, Tatum Sherard A, Woods Charles I
Department of Otolaryngology/Communicative Disorders Unit, SUNY-Upstate Medical University, 750 East Adams St., Syracuse, NY 13210, USA.
Int J Pediatr Otorhinolaryngol. 2003 Jan;67(1):71-7. doi: 10.1016/s0165-5876(02)00289-6.
Craniometaphyseal dysplasia (CMD) is a genetic syndrome involving 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 conductive hearing loss is also documented prior to 12 months of age. The clinical aspects of CMD will be covered along with its pathogenesis. The current concepts surrounding medical and surgical treatments will be reviewed, and the management of our patient will be discussed.
颅骨骨干发育异常（CMD）是一种遗传性综合征，涉及颅骨和管状骨异常，通常在年轻时出现，常伴有耳鼻喉科表现。在本文中，我们报告了一例罕见的散发性该疾病病例，导致早期低钙血症并继发甲状旁腺功能亢进。还记录了在12个月龄之前出现的传导性听力损失。将介绍CMD的临床特征及其发病机制。将回顾围绕药物和手术治疗的当前概念，并讨论我们患者的治疗管理。
