Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India.

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2023-03-01 DOI:10.1055/s-0041-1731684

Manisha Goyal, Ashok Gupta, Anu Bhandari, Mohammed Faruq

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引用次数: 1

Abstract

Achondroplasia is the most common autosomal dominant form of skeletal dysplasia and is caused by heterozygous mutations of the fibroblast growth factor receptor 3 ( FGFR3 ) gene at region 4p16.3. This study highlights the data of achondroplasia cases, clinical spectrum, and their outcome from small cities and the region around Rajasthan. The data for analysis were collected retrospectively from genetic records of rare disease clinic in Rajasthan. Clinical profile, radiographic features, molecular test results, and outcome were collected. There were 15 cases, including eight males and seven females, in this cohort. All had facial hypoplasia, depressed nasal bridge, prominent forehead, and characteristic radiographic features. A total of 14 cases were sporadic and one case was inherited from the mother. Mutation analysis showed 13 out of 15 cases with the p.Gly380Arg mutation in the FGFR3 gene. Hydrocephalus was developed in three cases, required shunting in two cases.

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软骨发育不全:来自印度罕见疾病中心的临床、放射学和分子特征。

软骨发育不全是骨骼发育不良最常见的常染色体显性形式，由成纤维细胞生长因子受体3 (FGFR3)基因在4p16.3区域的杂合突变引起。本研究强调了小城市和拉贾斯坦邦周边地区软骨发育不全病例、临床谱及其结果的数据。用于分析的数据回顾性地收集了拉贾斯坦邦罕见病诊所的遗传记录。收集临床资料、影像学特征、分子检测结果及预后。本队列共15例，其中男8例，女7例。所有患者均有面部发育不全、鼻梁凹陷、前额突出和特征性影像学表现。散发病例14例，母亲遗传1例。突变分析显示，15例中有13例在FGFR3基因中存在p.Gly380Arg突变。3例发生脑积水，2例需要分流。

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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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.