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[颅骨内板增生症;一种常染色体显性遗传的新综合征]

[Hyperostosis cranialis interna; a new syndrome with autosomal dominant inheritance].

作者信息

Manni J J, Scaf J J, Huygen P L, Cruysberg J R, Verhagen W I

机构信息

Afd. KNO, Sint-Radboudziekenhuis, Nijmegen.

出版信息

Ned Tijdschr Geneeskd. 1990 Sep 1;134(35):1697-701.

PMID:2215719
Abstract

A family is described which currently comprises nine individuals, spanning three generations, who are affected with a bone disorder which is confined to the skull and is accompanied by impaired function of the cranial nerves. Radiological examination showed intracranial hyperostosis and osteosclerosis of the calvaria and the base of the skull, without involvement of the mandible or other skeletal bones. Invariably, the main presenting symptom was recurrent facial nerve paralysis from late childhood onwards, but concurrent and variable involvement of the olfactory, optic, vestibular and acoustic nerves was seen; this could be attributed to nerve compression by the bony encroachment into the cranial foramina. Morphological investigations revealed increased formation of bone tissue with a normal structure. The pedigree suggests an autosomal dominant mode of heredity. A review of the literature did not disclose any previous reports on this disorder.

摘要

描述了一个目前由九名成员组成的家族,跨越三代,他们患有一种仅限于颅骨的骨病,并伴有颅神经功能受损。放射学检查显示颅骨和颅底有颅内骨质增生和骨硬化,下颌骨或其他骨骼未受累。无一例外,主要的首发症状是从童年后期开始反复发作的面神经麻痹,但可见嗅觉、视觉、前庭和听觉神经同时且不同程度地受累;这可归因于骨组织侵入颅孔导致神经受压。形态学研究显示骨组织形成增加且结构正常。家系图谱提示为常染色体显性遗传模式。文献回顾未发现此前关于该疾病的任何报道。

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