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.
Radiology and Neuroradiology Department, Children's Hospital V. Buzzi, Milan, Italy; Medical Genetics Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Claudia
C
Cesaretti
Luigina
L
Spaccini
Mariangela
M
Rustico
Cecilia
C
Parazzini
Chiara
C
Doneda
Thomas J
TJ
Re
Andrea
A
Righini
D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities* / Q000473:pathology; D004392:Dwarfism / Q000473:pathology*; D005260:Female; D006624:Hippocampus / Q000473:pathology*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008141:Lordosis / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013702:Temporal Lobe / Q000473:pathology*