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伴有颅骨骨质增生的多骨型纤维发育不良:新病种还是多骨型纤维发育不良的最严重形式?

Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia?

作者信息

Viljoen D L, Versfeld G A, Losken W, Beighton P

机构信息

Department of Human Genetics, Medical School, University of Cape Town, South Africa.

出版信息

Am J Med Genet. 1988 Mar;29(3):661-7. doi: 10.1002/ajmg.1320290325.

Abstract

Polyostotic fibrous (McCune-Albright) dysplasia is an uncommon nonhereditable disorder characterized by localized or widespread cystic changes in the skeleton. The limb bones are predominantly affected; craniofacial involvement is rare. We have encountered a severely affected man, with the additional manifestation of massive craniofacial hyperostosis. It is questionable whether this condition is an autonomous entity or represents the end of the spectrum of severity of polyostotic fibrous dysplasia.

摘要

多骨型纤维性(McCune-Albright)发育异常是一种罕见的非遗传性疾病,其特征是骨骼出现局部或广泛的囊性改变。四肢骨骼受累为主;颅面部受累罕见。我们遇到了一名病情严重的男性患者,还伴有大量颅面部骨质增生的表现。这种情况是一种独立的疾病实体,还是代表多骨型纤维性发育异常严重程度谱的末端,尚存在疑问。

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