title: MRI in Smith-Lemli-Opitz syndrome type I.
abstract: We describe a single case of a polymalformational syndrome in which the MR findings were of great help in the final diagnosis of Smith-Lemli-Opitz syndrome (SLOS) type I. MRI was performed for evaluation of the brain morphology since the clinical and laboratory findings were suggestive but not unequivocally indicative of SLOS. MRI findings of frontal lobe hypoplasia, cortical migration defect, and abnormalities of median line structures prompted the final diagnosis of SLOS.
authors.affiliation: CT and MR Unit, Università di Roma La Sapienza, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Trasimeni
authors.forename: C
authors.initials: C
authors.lastname: Di Biasi
authors.forename: M
authors.initials: M
authors.lastname: Iannilli
authors.forename: L
authors.initials: L
authors.lastname: Orlandi
authors.forename: B
authors.initials: B
authors.lastname: Boscherini
authors.forename: R
authors.initials: R
authors.lastname: Balducci
authors.forename: G F
authors.initials: GF
authors.lastname: Gualdi
mesh_terms: D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D003337:Corpus Callosum / Q000473:pathology; D003937:Diagnosis, Differential; D005625:Frontal Lobe / Q000002:abnormalities / Q000473:pathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000235:genetics