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

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

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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.

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