颅骨骨板发育不良，虫蚀型

定义 英文原文（暂无中文）

Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.

基本事实

遗传方式

常染色体隐性

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 26

外部标识与链接