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点状软骨发育不良:合并心脏病变患者的病例报告及文献综述

Chondrodysplasia punctata: case report and literature review of patients with heart lesions.

作者信息

Fourie D T

机构信息

Department of Pediatrics, University of Pretoria, South Africa.

出版信息

Pediatr Cardiol. 1995 Sep-Oct;16(5):247-50. doi: 10.1007/BF00795717.

Abstract

Chondrodysplasia punctata (CP) is sometimes accompanied by heart lesions, but the literature is not specific or consistent regarding the incidence or types of cardiac anomalies. A patient with the mild Conradi-Hünermann type of CP is peripheral pulmonary arterial stenoses. A review of the literature brought to light a total of 23 patients with congenital heart lesions that were mainly found among cases of Conradi-Hünermann type and autosomal recessively inherited CP.

摘要

点状软骨发育不良(CP)有时伴有心脏病变,但关于心脏异常的发生率或类型,文献报道并不具体或一致。一名患有轻度康拉迪 - 许纳曼型CP的患者存在外周肺动脉狭窄。文献回顾发现共有23例先天性心脏病变患者,主要见于康拉迪 - 许纳曼型和常染色体隐性遗传的CP病例中。

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