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

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.

[1]  E. Widjaja,et al.  Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation , 2013, Pediatric Radiology.

[2]  O. Mäkitie,et al.  Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation , 2012, American journal of medical genetics. Part A.

[3]  A. Righini,et al.  Early formative stage of human focal cortical gyration anomalies: fetal MRI. , 2012, AJR. American journal of roentgenology.

[4]  L. Richards,et al.  Fgfr3 regulates development of the caudal telencephalon , 2011, Developmental dynamics : an official publication of the American Association of Anatomists.

[5]  S. Aftimos,et al.  FGFR3 Mutations and Medial Temporal Lobe Dysgenesis Lobe Dysgenesis , 2007 .

[6]  S. Aftimos,et al.  FGFR3 mutations and medial temporal lobe dysgenesis. , 2007, Journal of child neurology.

[7]  S. Mandelstam,et al.  Medial temporal lobe dysgenesis in hypochondroplasia , 2005, American journal of medical genetics. Part A.

[8]  R. Hevner.  The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis , 2005, Acta Neuropathologica.

[9]  G. Morgese,et al.  Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia , 2003, American journal of medical genetics. Part A.

[10]  M. Huggins,et al.  Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus. , 1999, American journal of medical genetics.

[11]  R. Sperrazza,et al.  Prenatal diagnosis of skeletal dysplasia identified postnatally as hypochondroplasia. , 1990, American journal of medical genetics.