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[尖头并指(趾)畸形——沃格特综合征]

[Acrocephalosyndactylia--Vogt syndrome].

作者信息

Fehlow P, Walther F

出版信息

Psychiatr Neurol Med Psychol (Leipz). 1985 Jun;37(6):323-9.

PMID:4034800
Abstract

A genetically remarkable case of the Vogt syndrome (combination of the Apert and Crouzon syndromes) associated with a dysraphia syndrome is described. Clinically, malformations corresponding to the Apert syndrome were prominent, and radiological examination of the skull revealed a prominent Crouzon syndrome. Investigation of the familial background revealed the presence of malformations in other members of the family, such as malformation of the extremities and acrocephalus. On the other hand, the father's age of 63 years was considerably higher than that of fathers in the average population, so that the possibility of a new mutation had to be considered. The fact that the mother suffered an attack of influenza during pregnancy, finally, brought the possibility of peristatic influences being involved in the complex malformations.

摘要

本文描述了一例具有遗传学意义的沃格特综合征(阿佩尔综合征与克鲁宗综合征的组合)合并神经管闭合不全综合征的病例。临床上,与阿佩尔综合征相关的畸形较为突出,颅骨的放射学检查显示出明显的克鲁宗综合征特征。对家族背景的调查发现,家族中的其他成员也存在畸形,如肢体畸形和尖头畸形。另一方面,父亲63岁的年龄远高于普通人群中父亲的年龄,因此不得不考虑新突变的可能性。最后,母亲在孕期患流感这一事实,使得蠕动影响参与复杂畸形形成的可能性增加。

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