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

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. © 2014 John Wiley & Sons, Ltd. What is already known about this topic?Neurological involvement in hypochondroplasia (HCH) has recently been demonstrated in relatively large cohorts of children, who showed characteristic abnormal morphology of the basal temporal neocortex and abnormal hippocampal rotation at magnetic resonance (MR) imaging. What does this study add?This case report shows the role of prenatal brain MR imaging in the early diagnosis of HCH in a fetus with borderline femoral shortening at ultrasound, where MR imaging detected the characteristic temporal and hippocampal anomalies. The diagnosis of HCH was confirmed by fibroblast growth factor receptor 3 molecular analysis.