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纹状骨病伴颅骨硬化。一种常染色体显性遗传病。

Osteopathia striata with cranial sclerosis. An autosomal dominant entity.

作者信息

Horan F T, Beighton P H

出版信息

Clin Genet. 1978 Feb;13(2):201-6. doi: 10.1111/j.1399-0004.1978.tb04250.x.

DOI:10.1111/j.1399-0004.1978.tb04250.x
PMID:627110
Abstract

The syndromic association of striae in the long bones and pelvis, together with sclerosis of the base of the skull, has been investigated in four families. Impairment of hearing and alteration in the shape of the head are the most important clinical manifestations. Spinal abnormalities are an inconsistent feature. The distribution of affected individuals in the kindreds is compatible with autosomal dominant inheritance.

摘要

对四个家族中长骨和骨盆出现条纹并伴有颅底硬化的综合征关联情况进行了研究。听力损害和头部形状改变是最重要的临床表现。脊柱异常是一个不太一致的特征。亲属中受影响个体的分布符合常染色体显性遗传。

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