NEW DISTINCT LETHAL OSTEOSCLEROTIC BONE DYSPLASIA (RAINE SYNDROME)

被引：45

作者：

KAN, AE ^{[1
]}

KOZLOWSKI, K ^{[1
]}

机构：

[1] ROYAL ALEXANDRA HOSP CHILDREN,DEPT RADIOL,CAMPERDOWN,NSW 2050,AUSTRALIA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 05期

关键词：

OSTEODYSPLASIA; OSTEOSCLEROSIS; CRANIOFACIAL DYSMORPHOLOGY;

D O I：

10.1002/ajmg.1320430522

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a third case of a rare neonatal lethal sclerotic bone disorder with distinct craniofacial anomalies and striking radiographic and hitherto undescribed histopathologic features. The remarkable similarity between our patient and 2 recently reported infants suggests strongly a distinct entity. We propose the term Raine syndrome as a convenient identification of this disorder.

引用

页码：860 / 864

页数：5

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