颅骨膜性成骨延迟

定义 英文原文（暂无中文）

Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.

别名

Gonzales-del Angel综合征

基本事实

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 7

外部标识与链接