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[尖头并指畸形I型(阿佩尔综合征)]

[Acrocephalosyndactyly I (Apert syndrome)].

作者信息

Linss G

机构信息

Hautklinik im Klinikum Frankfurt.

出版信息

Hautarzt. 2000 Sep;51(9):685-7. doi: 10.1007/s001050051196.

Abstract

A fourteen years old girl showed the classic signs of acrocephalosyndactyly I: dysostosis craniofacialis with hypertelorism, exophthalmus, strabism, amblyopia and cleft palate as well as syndactyly of the fingers and toes. The feet showed on both side a 6 cm long horny band. Since the twelfth year of life, she had suffered from papulo-pustular acne with many comedomes. Her menstruation started one year later. Intellectual development was normal. At time of her birth, her father was 54 years old, and her mother 36 years old. Two elder siblings are healthy. The inheritance of acrocephalosyndactyly I is usually autosomal dominant, but sporadic cases are frequent.

摘要

一名14岁女孩表现出典型的Ⅰ型尖头并指畸形症状:颅面骨发育不全,伴有眼距增宽、眼球突出、斜视、弱视和腭裂,以及手指和脚趾并指。双脚两侧均有一条6厘米长的角质带。自12岁起,她就患有丘疹脓疱性痤疮,伴有许多粉刺。她一年后开始 menstruation(此处英文有误,推测应为menstruation,意为月经)。智力发育正常。她出生时,父亲54岁,母亲36岁。两个哥哥姐姐身体健康。Ⅰ型尖头并指畸形通常为常染色体显性遗传,但散发病例很常见。

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