前脑无裂畸形-颅缝早闭综合征

定义 英文原文（暂无中文）

A rare syndromic craniosynostosis characterized by primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Additional clinical features may include craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay. There have been no further descriptions in the literature since 1993.

别名

Camero-Lituania-Cohen综合征

基本事实

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 21

外部标识与链接