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Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia
Author(s) -
Cesaretti Claudia,
Spaccini Luigina,
Rustico Mariangela,
Parazzini Cecilia,
Doneda Chiara,
Re Thomas J.,
Righini Andrea
Publication year - 2014
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4415
Subject(s) - magnetic resonance imaging , temporal lobe , hippocampal formation , dysplasia , prenatal diagnosis , osteochondrodysplasia , medicine , pathology , fetus , biology , genetics , neuroscience , radiology , pregnancy , epilepsy
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. © 2014 John Wiley & Sons, Ltd.