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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.

DOI:10.1007/BF00795717
PMID:8524712
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。

相似文献

1
Chondrodysplasia punctata: case report and literature review of patients with heart lesions.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
Pediatr Cardiol. 1995 Sep-Oct;16(5):247-50. doi: 10.1007/BF00795717.
2
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.
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3
Severe pulmonary arterial stenoses in Conradi-Hünermann disease.
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4
[Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].点状软骨发育不良(康拉迪 - 许纳曼综合征)。一例临床病例报告及文献综述
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Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome.血清脂质分析确诊了X连锁显性点状软骨发育不良——康拉迪-许纳曼-哈普尔综合征。
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The syndrome page. X-linked dominant chondrodysplasia punctata (Conradi-Hünermann syndrome).综合征页面。X连锁显性点状软骨发育不良(康拉迪-许纳曼综合征)。
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Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).康拉迪-许纳曼-哈普尔综合征:一种新的杂合错义突变,c.204G>T(p.W68C)
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Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata.点状软骨发育不良X连锁隐性型中的严重气管支气管狭窄。
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本文引用的文献

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[Description of chondrodysplasia calcificans congenita and its relation to chondrodysplasia foetalis].先天性钙化性软骨发育异常及其与胎儿软骨发育异常的关系描述
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7
Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata.显性性连锁遗传性点状软骨发育不良:一种独特类型的点状软骨发育不良。
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8
Mesomelic dysplasia with punctate epiphyseal calcifications--a new entity of chondrodysplasia punctata?伴有点状骨骺钙化的中肢发育不全——点状软骨发育不良的一种新类型?
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[Chondrodysplasia punctata congenita: a genetic heterogenous disease].先天性点状软骨发育不良:一种遗传异质性疾病
Tijdschr Kindergeneeskd. 1984 Feb;52(1):16-23.
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Fetal ascites associated with Conradi's disease (chondrodysplasia punctata): report of a case.与康拉迪病(点状软骨发育不良)相关的胎儿腹水:病例报告
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