颅骨干骺端发育不良(Craniometaphyseal dysplasia,CMD)是一种罕见的遗传性骨发育不良性疾病,其特点是颅面骨进行性增生硬化,伴管状骨干骺端骨质异常增宽。该病的遗传方式有两种:常染色体显性遗传(AD,OMIM#123000)和常染色体隐性遗传(AR,OMIM#218400)。本文报道了1例以颅面部先天畸形和听力丧失为特征的7岁男性CMD患者,属于常染色体显性遗传,遗传学检查证实其为ANKH基因突变导致。

Craniometaphyseal dysplasia (CMD) is a rare genetic bone disorder characterized by progressive hyperostosis and sclerosis of the craniofacial bones and abnormal metaphyseal widening of the tubular bones.CMD has two major modes of inheritance,autosomal dominant (AD) form (OMIM #123000) and autosomal recessive (AR) form (OMIM #218400).In this paper,a 7-year-old male with AD CMD was reported.The patient presented with a history of congenital craniofacial deformities and hearing loss,and was later confirmed by ANKH mutation.