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家族性弥漫性皮质增生伴显性遗传(沃思型)新病例(作者译)

[New cases of familial generalized cortical hyperostosis with dominant transmission (Worth's type) (author's transl)].

作者信息

Vayssairat M, Prier A, Meisel C, Camus J P, Grellet J

出版信息

J Radiol Electrol Med Nucl. 1976 Oct;10(57):719-24.

PMID:794463
Abstract

A case of two families with a total of 5 cases of generalized cortical hyperostosis of the cortex of the long bones is clinically latent. It is not accompanied by any osseous fragility and is usually discovered by chance. Mandibular hypertrophy can occur but is not constant. It must be differentiated from the recessive form described by Van Buchen, which is more severe and involves extensive and progressive osteocondensation which can lead to paralysis of the cranial nerves. The small number of cases published (23) leads one to suppose that its diagnosis is frequently missed, undoubtedly because it is mixed up with a minor form of osteopetrosis.

摘要

一个包含两个家族共5例长骨皮质广泛性皮质增生的病例在临床上是隐匿的。它不伴有任何骨质脆弱,通常是偶然发现的。下颌骨肥大可能会出现,但并非总是如此。它必须与范·布肯描述的隐性形式相鉴别,后者更为严重,涉及广泛且进行性的骨硬化,可导致颅神经麻痹。已发表的病例数量较少(23例),这让人推测其诊断经常被漏诊,无疑是因为它与轻度骨硬化症混淆了。

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