颅缝早闭，Philadelphia型

定义 英文原文（暂无中文）

Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.

基本事实

遗传方式

常染色体显性

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 3

外部标识与链接