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

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

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Abstract

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 cohort (13/31, 41.9%) and describe relevant case‐data for this subset of 13 patients. Inclusion criteria were patients with confirmed molecular HCH diagnosis (by age 3 years) and presenting with short long‐bones or large head size on antenatal ultrasound scan. We then conducted a systematic literature review using PUBMED and MEDLINE, analyzing patients with HCH and related antenatal findings. Antenatally suspected (with subsequent molecular confirmation) HCH has been reported 15 times in the literature (2004–2019). Key markers (consistent in both groups) included reduced; femur length, humeral length and increased; biparietal diameter and head circumference. HCH is increasingly detected both antenatally and in infancy, contrary to previous descriptions. This is likely due to greater HCH awareness, improved imaging, and easier molecular testing. Thus, one should consider HCH outside the classical presenting period. Studying the natural history of younger patients with HCH is important with the advent of several targeted FGFR3 therapies currently in trials for Achondroplasia, that may soon be trialed in HCH.
Original languageEnglish
Pages (from-to)73-82
JournalAmerican Journal of Medical Genetics Part A
Volume185
Issue number1
Early online date14 Oct 2020
DOIs
Publication statusE-pub ahead of print - 14 Oct 2020

Keywords

  • FGFR3
  • hypochondroplasia
  • prenatal diagnosis

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