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冯雷克林霍增氏神经纤维瘤病的独特面部外观。

A distinctive facial appearance in neurofibromatosis von Recklinghausen.

作者信息

Kaplan P, Rosenblatt B

出版信息

Am J Med Genet. 1985 Jul;21(3):463-70. doi: 10.1002/ajmg.1320210308.

Abstract

Three children with neurofibromatosis from two unrelated families have unusual facial appearance due to telecanthus, antimongoloid slant of the palpebral fissures, broad nose, and tapering chin. The two boys have large hands and feet, and one is very tall. There were some facial and dermatoglyphic similarities to individuals with the Noonan syndrome, but the manifestations in the children reported here are sufficiently different to suggest the presence of a different type of neurocristopathy in these individuals.

摘要

来自两个无亲缘关系家庭的三名患有神经纤维瘤病的儿童面部外观异常,表现为内眦间距增宽、睑裂反蒙古样倾斜、宽鼻和尖下巴。这两名男孩手脚较大,其中一名非常高。这些儿童的面部和皮纹特征与努南综合征患者有一些相似之处,但此处报告的儿童表现有足够差异,提示这些个体存在一种不同类型的神经嵴病。

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