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

Manisha Goyal; Ashok Gupta; Anu Bhandari; Mohammed Faruq

doi:10.1055/s-0041-1731684

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

J Pediatr Genet. 2021 Jul 7;12(1):42-47. doi: 10.1055/s-0041-1731684. eCollection 2023 Mar.

Authors

Manisha Goyal¹, Ashok Gupta², Anu Bhandari³, Mohammed Faruq⁴

Affiliations

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

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: FGFR3 gene; achondroplasia; skeletal dysplasia.