title: Prenatal ultrasound diagnosis of Toriello-Carey syndrome.
abstract: Toriello-Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome based on the detection of agenesis of the corpus callosum and spongious cardiomyopathy in a 22-week-old fetus of a couple with positive family history. The first sib of the couple was diagnosed with Toriello-Carey syndrome at 1 year of age, and had, in addition to the typical facial anomalies not detectable by ultrasound, agenesis of the corpus callosum and the same heart lesion (spongious cardiomyopathy). This report demonstrates that prenatal diagnosis of Toriello-Carey syndrome is feasible in the second trimester of pregnancy.
authors.affiliation: Fetal Cardiology Unit-Dept Gynecology and Obstetrics University Federico II of Naples, Italy. paladini@cds.unina.it
authors.forename: Dario
authors.initials: D
authors.lastname: Paladini
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Russo
authors.forename: Antonio
authors.initials: A
authors.lastname: Tartaglione
authors.forename: Annamaria
authors.initials: A
authors.lastname: Loffredo
authors.forename: Pasquale
authors.initials: P
authors.lastname: Martinelli
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D000025:Abortion, Eugenic; D000328:Adult; D061085:Agenesis of Corpus Callosum; D009202:Cardiomyopathies / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D004452:Echocardiography; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009206:Myocardium / Q000473:pathology; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal