DYSSPONDYLOCHONDROMATOSIS

被引：20

作者：

FREISINGER, P ^{[1
]}

FINIDORI, G ^{[1
]}

MAROTEAUX, P ^{[1
]}

机构：

[1] HOP NECKER ENFANTS MALAD,CNRS,URA 584,149 RUE SEVRES,F-75743 PARIS 15,FRANCE

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 04期

关键词：

ENCHONDROMATOSIS; DWARFISM; SPINE;

D O I：

10.1002/ajmg.1320450413

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on 3 unrelated patients with an unusual form of neonatal dwarfism with unequal limb length. Radiographs show multiple enchondromatosis of the tubular and the flat bones and severe segmentation abnormalities of the vertebral column. These observations differ from the hitherto described forms of multiple enchondromatosis with growth disorders of the spine, spondyloenchondroplasia, and others. Therefore we propose to delineate this disorder as a new entity.

引用

页码：460 / 464

页数：5

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