Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss.

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2021-03-01 Epub Date: 2020-03-09 DOI:10.1055/s-0040-1708052

Meenakshi Lallar, Veronica Arora, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma

引用次数: 2

Abstract

Complete labyrinthine aplasia (CLA) is a rare inner ear anomaly. The only identified genetic cause of CLA with severe sensorineural hearing loss is labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome. Here we reported a child who presented with syndromic hearing loss and was diagnosed with LAMM syndrome. Genetic evaluation provided the family with confirmation of the diagnosis, provision of the prognosis, genetic counselling, and prenatal diagnosis. This report highlighted that CLA should be recognized as a unique sign to diagnose LAMM syndrome, to analyze FGF3 gene mutation, and also demonstrated the utility of genetic testing in patients with suspected LAMM syndrome to provide exact diagnosis and further management.

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完全迷路发育不全:听力损失基因检测的独特标志。

完全迷路发育不全(CLA)是一种罕见的内耳异常。唯一确定的CLA伴严重感音神经性听力损失的遗传原因是迷路发育不全、小牙畸形和小牙畸形(LAMM)综合征。在这里，我们报告了一个儿童谁提出综合征听力损失，并被诊断为LAMM综合征。遗传评估为家庭提供诊断确认、提供预后、遗传咨询和产前诊断。本报告强调了CLA应被视为LAMM综合征诊断的独特标志，分析FGF3基因突变，并证明了基因检测在疑似LAMM综合征患者中的应用，以提供准确的诊断和进一步的治疗。

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.