Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia

Claudia Cesaretti, Luigina Spaccini, Mariangela Rustico, Cecilia Parazzini, Chiara Doneda, Thomas J. Re, Andrea Righini

Research output: Contribution to journalArticle

Abstract

Hypochondroplasia (HCH) is a genetic skeletal dysplasia, inherited in an autosomal dominant fashion. About 50-70% of HCH patients have a mutation in FGFR3 gene and in the majority of cases it is a de novo mutation. Recent magnetic resonance imaging studies on relative large cohorts of HCH patients have showed a central nervous system involvement with a high incidence of characteristic temporal lobe and hippocampal abnormalities. To the best of our knowledge, this report shows the first magnetic resonance imaging prenatal detection of characteristic brain anomalies in a case of HCH, molecularly confirmed through postnatal FGFR3 analysis.

Original languageEnglish
Pages (from-to)1015-1017
Number of pages3
JournalPrenatal Diagnosis
Volume34
Issue number10
DOIs
Publication statusPublished - Oct 1 2014

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology
  • Medicine(all)

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