An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2021-03-01 Epub Date: 2020-01-20 DOI:10.1055/s-0039-1701020

Jason L Williams, Marie T McDonald, Bryce A Seifert, Kristen L Deak, Catherine W Rehder, Michael J Campbell

引用次数: 5

Abstract

Cat eye syndrome (CES) is a rare genetic defect, characterized by iris colobomas, preauricular skin tags, and anal malformations. Affecting 1 in 150,000 people, this defect is caused by duplication or triplication of the proximal long (q) arm of chromosome 22. Congenital heart disease is associated with CES. One of the most common heart defects in patients with CES is total anomalous pulmonary venous return (TAPVR). In this article, we reported patients with a rare association of concomitant TAPVR and aortic arch obstruction: one with interrupted aortic arch and the other with coarctation of the aorta with an aberrant right subclavian artery.

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一种不寻常的关联:猫眼综合征患者的肺静脉完全异常回流和主动脉弓梗阻。

猫眼综合征(CES)是一种罕见的遗传缺陷，其特征是虹膜结肠瘤、耳前皮赘和肛门畸形。这种缺陷是由22号染色体近端长臂(q)的重复或三倍引起的，每15万人中就有1人患有这种缺陷。先天性心脏病与CES有关。完全性肺静脉回流异常(TAPVR)是CES患者最常见的心脏缺陷之一。在这篇文章中，我们报道了一组罕见的伴有TAPVR和主动脉弓梗阻的患者:一名主动脉弓中断，另一名主动脉弓缩窄伴右锁骨下动脉异常。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.