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Achondroplasia-First Report from India of a Rare FGFR3 Gene Variant.

Laboratory medicine - 1 Sept 2021

Chaudhry Chakshu, G Prabakaran, Srivastava Priyanka, Das Reena, Kaur Jasbir, Panigrahi Inusha, Kaur Anupriya

Abstract excerpt

The clinical manifestations of FGFR3 sequence variations can vary from mild unnoticed short stature to neonatal lethal dwarfism and can be causative of phenotypes including achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Clinical data describe an 11 month old girl with restricted growth and preserved intellect. She had rhizomelic short stature with peculiar facies but no Acanthosis nigricans. In...

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PMID: 33511985
DOI: 10.1093/labmed/lmaa116

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