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J Pediatr Genet 2023; 12(01): 042-047
DOI: 10.1055/s-0041-1731684
Original Article

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

Manisha Goyal
1   Rare disease centre, Department of Pediatrics, SMS medical college, Jaipur, Rajasthan, India
,
Ashok Gupta
2   Department of Pediatrics, Rare Disease Center, SMS Medical College, Jaipur, Rajasthan, India
,
Anu Bhandari
3   Department of Radiodiagnosis, SMS Medical College, Jaipur, Rajasthan, India
,
Mohammed Faruq
4   Genomics and Molecular Medicine, CSIR-Institute of Genomics and integrative Biology, New Delhi, India
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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.

Keywords

achondroplasia - FGFR3 gene - skeletal dysplasia


Publication History

Received: 18 November 2020

Accepted: 22 May 2021

Article published online:
07 July 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
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