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[结节性硬化症(布尔内维尔病)。59例儿童患者的临床与遗传学研究]

[Bournevilles tuberous sclerosis. clinical and genetic study of 59 cases in children].

作者信息

Ponsot G, Lyon G

出版信息

Arch Fr Pediatr. 1977 Jan;34(1):9-22.

PMID:851374
Abstract

The authors have studied 59 cases of Bourneville's tuberous sclerosis, including 44 sporadic cases from healthy parents and 9 familial patients. They stress the very high frequency of spasms in the infants of less than one year (80 %), the frequency and the early appearance of retinal phakomata and areas of depigmentation and the interest in the early detection of intracranial calcification. They discuss the specificity of the individual manifestations: cutaneous, retinal and systemic and they consider the problem of genetic counselling.

摘要

作者研究了59例结节性硬化症(Bourneville病)患者,其中包括44例父母健康的散发病例和9例家族性患者。他们强调1岁以下婴儿痉挛的发生率极高(80%),视网膜错构瘤、色素脱失区域出现的频率及较早出现情况,以及早期检测颅内钙化的重要性。他们讨论了个体表现(皮肤、视网膜和全身)的特异性,并考虑了遗传咨询问题。

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