Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. (11th June 2014)

• Record Type: Journal Article
• Authors: Cesaretti, Claudia; Spaccini, Luigina; Rustico, Mariangela; Parazzini, Cecilia; Doneda, Chiara; Re, Thomas J.; Righini, Andrea
• Is Part Of: Prenatal diagnosis. Volume 34:Number 10(2014:Oct.)
• Page Start: 1015
• Page End: 1017
• Publication Date: 2014-06-11
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4415
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <p>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 &amp; Sons, Ltd.</p> </abstract>