title: Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.
abstract: Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene rarely diagnosed prenatally and with little fetal description reported. It is mainly characterized by moderate-to-severe intellectual disability, epilepsy, facial dysmorphism and various malformations including Hirschsprung disease and corpus callosum anomalies. Here we report a fetal case of MWS well described, suspected at standard autopsy. The association of a corpus callosum hypoplasia with a histological Hirschsprung disease and a typical facial gestalt allowed the guiding of genetic testing. Classical fetopathological examination still keeps indications in cases of syndromic association in the era of virtual autopsy.
authors.affiliation: Department of Developmental Biology, Robert Debré Hospital, AP-HP, 48 Boulevard Sérurier, Paris, France. spaggiari2002@yahoo.fr
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Spaggiari
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Marianne
authors.initials: M
authors.lastname: Alison
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Oury
authors.forename: Nadia
authors.initials: N
authors.lastname: Belarbi
authors.forename: Céline
authors.initials: C
authors.lastname: Dupont
authors.forename: Fabien
authors.initials: F
authors.lastname: Guimiot
authors.forename: Anne-Lise
authors.initials: AL
authors.lastname: Delezoide
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D061085:Agenesis of Corpus Callosum / Q000175:diagnosis* / Q000235:genetics; D001344:Autopsy; D003337:Corpus Callosum / Q000473:pathology; D019066:Facies; D005260:Female; D006579:Heterozygote; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012097:Repressor Proteins / Q000235:genetics; D000074165:Zinc Finger E-box Binding Homeobox 2
chemical_list: D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2