家族性锁骨颅骨发育不全：一项诊断挑战。
Familial Cleidocranial Dysplasia: A Diagnostic Challenge.
作者信息
Verma Sugandha, Koppula Srikrishna, Kumar Vikas
机构信息
Oral Medicine and Radiology, Dental Institute, Rajendra Institute of Medical Sciences (RIMS), Bariatu, 834009 Ranchi India.
Oral Medicine and Radiology, Hazaribagh College of Dental sciences And Hospital, Demotand, Hazaribagh, 825301 India.
出版信息
Indian J Otolaryngol Head Neck Surg. 2024 Feb;76(1):1161-1163. doi: 10.1007/s12070-023-04194-2. Epub 2023 Aug 31.
Abstract
Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting primarily the cranium, clavicle, and dental tissues. The expression of this disorder can vary widely in severity, even within the same family. Here we present a case report of an affected mother and son with classical manifestations of the disease.
摘要
锁骨颅骨发育不全（CCD）是一种罕见的遗传性疾病，主要影响颅骨、锁骨和牙齿组织。这种疾病的表现严重程度差异很大，即使在同一家族中也是如此。在此，我们报告一例患病母亲和儿子的病例，他们具有该疾病的典型表现。
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