Case report

Case Report:Craniometaphyseal Dysplasia

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  • Department of Plastic and Reconstructive Surgery,Shanghai Ninth People’s Hospital,Shanghai Jiaotong University School of Medicine

Online published: 2020-07-23

Abstract

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.

Cite this article

GENG Yinnan,WEI Min . Case Report:Craniometaphyseal Dysplasia[J]. Journal of Tissue Engineering and Reconstructive Surgery, 2017 , 13(4) : 208 -211 . DOI: 10.3969/j.issn.1673-0364.2017.04.009

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