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Article

Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.

American journal of medical genetics. Part A - 1 Jan 2021

Sabir Ataf H, Sheikh Jameela, Singh Ananya, Morley Elizabeth, Cocca Alessandra, Cheung Moira S, Irving Melita

Abstract excerpt

Hypochondroplasia (HCH) is a rare autosomal dominant skeletal dysplasia condition caused by FGFR3 mutations leading to disproportionate short stature. Classically HCH presents in toddlers or school-age children, as limb-to-trunk disproportion and is often mild and easily overlooked during infancy. We report experiences from a single-center UK HCH-cohort of 31 patients, the rate of antenatal HCH detection in our...

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Identifiers

PMID: 33051983
DOI: 10.1002/ajmg.a.61912

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