Suppr超能文献

[综合征18. 冯·雷克林豪森病]

[Syndromes 18. Von Recklinghausen's disease].

作者信息

Baart J A, van Hagen J M

机构信息

Afdeling Mondziekten en Kaakchirurgie/Orale Pathologie van de Vrije Universiteit/Academisch Centrum Tandheelkunde Amsterdam (ACTA).

出版信息

Ned Tijdschr Tandheelkd. 2000 Feb;107(2):57-9.

Abstract

Von Recklinghausen's disease (neurofibromatosis 1; NF1) is one of the neurofibromatoses and accounts for about 90% of all cases. Inheritance is autosomal dominant with about 30-50% of cases representing new mutations. Characteristic features for NF1 are six or more café-au-lait-spots, neurofibromas, Lisch nodules and axillary freckling. Oral manifestation consists of neurofibromas and intrabony lesions. Due to growth of the oral and facial neurofibromas maldevelopment of the facial skeleton and malocclusion are seen. Surgical correction in young individuals easily leads to recurrence. Contour corrected surgery in grown up individuals is possible.

摘要

冯雷克林霍增氏病(神经纤维瘤病1型;NF1)是神经纤维瘤病之一,约占所有病例的90%。其遗传方式为常染色体显性遗传,约30 - 50%的病例为新发突变。NF1的特征性表现为六个或更多的咖啡牛奶斑、神经纤维瘤、虹膜错构瘤和腋窝雀斑。口腔表现包括神经纤维瘤和骨内病变。由于口腔和面部神经纤维瘤的生长,可出现面部骨骼发育不良和错牙合畸形。年轻个体进行手术矫正容易导致复发。成年个体可行轮廓矫正手术。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验