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单词 Craniofacial Dysostosis
释义

Craniofacial Dysostosis

中文百科

克鲁松氏症候群 Crouzon syndrome

(重定向自Craniofacial Dysostosis)

克鲁松氏症候群是第十号及第四号染色体上的FGFR基因出现错误而引致的骨骼、软骨的形成异常。

其发生率为1/25000至1/60000。

遗传方面,其遗传方式为点突变,例如C342Y、Y340H、S354C及FGFR3的P250R等几处点突变。

英语百科

Crouzon syndrome 克鲁松氏症候群

(重定向自Craniofacial Dysostosis)
A child with Crouzon syndrome wearing a corrective cranial band.

Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects.

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更新时间:2025/6/18 14:19:36