单心房、房室管/轴后多指（趾）畸形提示埃利斯-范克里弗德综合征。 - Suppr

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超能文献

Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome.

作者信息

Digilio M C, Marino B, Giannotti A, Dallapiccola B

出版信息

Hum Genet. 1995 Aug;96(2):251-3. doi: 10.1007/BF00207395.

DOI:10.1007/BF00207395

PMID:7635486

Abstract

摘要

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Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome.单心房、房室管/轴后多指（趾）畸形提示埃利斯-范克里弗德综合征。

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Establishing an objective clinical spectrum, genotype-phenotype correlations, and as a modifier in the Ellis-van Creveld syndrome: The first systematic review of and -associated conditions.建立客观的临床谱、基因型-表型相关性，以及作为埃利斯-范克里维尔德综合征的一个修饰因素：对[相关基因]和[相关疾病]的首次系统综述

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Well-Tolerated and Undiscovered Common Atrium until Late Adulthood.耐受性良好且直到成年晚期才被发现的共同心房。

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Atrioventricular canal defect as a sign of laterality defect in Ellis-van Creveld and polydactyly syndromes with ciliary and Hedgehog signaling dysfunction.房室管缺损作为埃利斯-范克雷维尔德综合征和多指畸形综合征中伴有纤毛和刺猬信号通路功能障碍的偏侧性缺陷的一种表现。

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Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.扩大埃利斯-范克里维尔德综合征的谱系：一个EVC基因存在轻度突变的大家族。

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Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.对EVC和EVC2进行测序可在三分之二的埃利斯-范克雷维尔德综合征患者中识别出突变。

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Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.口心指综合征：一种与房室管相关的II型口面指综合征变异型。

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本文引用的文献

Post-axial hexodactily and single atrium: a new syndrome?

Hum Genet. 1994 Jul;94(1):104-6. doi: 10.1007/BF02272854.

[Ellis-Van Creveld syndrome with cardiac involvement (common atrium, persistence of the left superior vena cava and atresia of the coronary sinus)].

Rev Esp Cardiol. 1981;34(1):77-80.

Polysplenia: a review of 146 cases.多脾综合征：146例病例回顾

Pediatr Cardiol. 1983 Apr-Jun;4(2):129-37. doi: 10.1007/BF02076338.

Oral manifestations of chondroectodermal dysplasia (Ellis-Van Creveld Syndrome). Report of a case.

Br Dent J. 1967 Feb 7;122(3):103-7.

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