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

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Abstrakt

Tytuł:: Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia.
Autorzy:: Cesaretti C; Radiology and Neuroradiology Department, Children's Hospital V. Buzzi, Milan, Italy; Medical Genetics Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Spaccini L
Rustico M
Parazzini C
Doneda C
Re TJ
Righini A
Źródło:: Prenatal diagnosis [Prenat Diagn] 2014 Oct; Vol. 34 (10), pp. 1015-7. Date of Electronic Publication: 2014 Jun 11.
Typ publikacji:: Case Reports; Journal Article
Język:: English
Imprint Name(s):: Original Publication: Chichester, [Sussex]; New York : Wiley, c1981-
MeSH Terms:: Magnetic Resonance Imaging*
Prenatal Diagnosis*
Bone and Bones/*abnormalities
Dwarfism/*pathology
Hippocampus/*pathology
Limb Deformities, Congenital/*pathology
Lordosis/*pathology
Temporal Lobe/*pathology
Adult ; Bone and Bones/pathology ; Female ; Humans ; Pregnancy
SCR Disease Name:: Hypochondroplasia
Entry Date(s):: Date Created: 20140520 Date Completed: 20150629 Latest Revision: 20141002
Update Code:: 20240104
DOI:: 10.1002/pd.4415
PMID:: 24839128
: Czasopismo naukowe

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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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