The dysmorphic phenotype in vascular Ehlers Danlos syndrome.

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2023-01-01 DOI:10.1097/MCD.0000000000000437

James R Lyness, Patrick J Morrison

引用次数: 0

Abstract

The Ehlers Danlos syndromes are identified by their connective tissue features and are not rich in dysmorphic handles. Vascular Ehlers Danlos syndrome (vEDS) however, is characterised by a recognisable phenotypic constellation of internal and external dysmorphology. This review charts the paediatric and adult phenotypes of vEDS due primarily to COL3A1 gene variants and the potential recognition of some other EDS subtypes, including COL1A1 and COL25A1 that can present with vEDS-like features, with certain dysmorphic handles as clues to the diagnosis and the adjunct of gene testing in patients presenting with vEDS features.

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血管性Ehlers - Danlos综合征的畸形表型。

Ehlers Danlos综合征通过其结缔组织特征来识别，并且不富含畸形把手。然而，血管Ehlers - Danlos综合征(vEDS)的特点是内部和外部畸形的可识别的表型星座。本文综述了主要由COL3A1基因变异引起的vEDS的儿科和成人表型，以及对其他一些EDS亚型(包括COL1A1和COL25A1)的潜在识别，这些亚型可以表现出类似vEDS的特征，某些畸形的处理可以作为诊断的线索，也可以作为出现vEDS特征的患者基因检测的辅助手段。

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

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.