组织工程与重建外科杂志2017，Vol.13Issue(4)：208-211,4.DOI:10.3969/j.issn.1673-0364.2017.04.009
颅骨干骺端发育不良1例
Case Report: Craniometaphyseal Dysplasia
耿英楠 1韦敏1
作者信息
- 1. 200011上海市 上海交通大学医学院附属第九人民医院整复外科
- 折叠
摘要
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.关键词
颅骨干骺端发育不良/颅骨增生硬化/干骺端增宽/颅面部畸形Key words
Craniometaphyseal dysplasia/Hyperostosis sclerosis/Metaphyseal widening/Craniofacial deformity分类
医药卫生引用本文复制引用
耿英楠,韦敏..颅骨干骺端发育不良1例[J].组织工程与重建外科杂志,2017,13(4):208-211,4.
