家族性锁骨颅骨发育不全
Familial Cleidocranial Dysplasia.
作者信息
Verma Radhika, Jindal M K, Maheshwari Sandhya
机构信息
Tutor, Department of Pedodontics, Faculty of Medicine, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.
Chairman and Associate Professor, Department of Pedodontics, Faculty of Medicine, Aligarh Muslim University, Aligarh Uttar Pradesh, India.
出版信息
Int J Clin Pediatr Dent. 2010 Jan-Apr;3(1):57-61. doi: 10.5005/jp-journals-10005-1055. Epub 2010 Apr 15.
Cleidocranial dysplasia or mutational dysostosis or cleidocranial dysostosis is a generalized skeletodental dysplastic disorder, inherited in an autosomal dominant pattern. The expression of this disorder can vary widely in severity, even within the same family. This is a relatively rare disease and has no standard effective treatment option as of yet. Here we present a case report of affected mother and son with classical manifestations of the disease.
锁骨颅骨发育不全症或突变性骨发育异常或锁骨颅骨发育异常是一种全身性骨骼牙齿发育异常性疾病，以常染色体显性模式遗传。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。这是一种相对罕见的疾病，目前尚无标准的有效治疗方案。在此，我们报告一例患病母亲和儿子均有该疾病典型表现的病例。
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