title: Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature.
abstract: We report on a patient with Sedaghatian type spondylometaphyseal dysplasia (SSMD) who presented with metaphyseal dysplasia, congenital atrioventricular block, simplified gyral pattern, hypogenesis of corpus callosum, and severe cerebellar hypoplasia. We want to emphasize that in this rare congenital lethal skeletal dysplasia with unknown etiology, central nervous system malformations might be a major component of the disorder and should be evaluated in detail to possibly uncover the underlying pathophysiology.
authors.affiliation: Faculty of Medicine, Department of Pediatrics, Neonatalogy Division, Ondokuz Mayis University, Samsun, Turkey.
authors.forename: Canan
authors.initials: C
authors.lastname: Aygun
authors.forename: Fatma Cakmak
authors.initials: FC
authors.lastname: Celik
authors.forename: Mehmet Selim
authors.initials: MS
authors.lastname: Nural
authors.forename: Emine
authors.initials: E
authors.lastname: Azak
authors.forename: Sukru
authors.initials: S
authors.lastname: Kucukoduk
authors.forename: Gonul
authors.initials: G
authors.lastname: Ogur
authors.forename: Lutfi
authors.initials: L
authors.lastname: Incesu
mesh_terms: D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D059906:Neuroimaging; D010009:Osteochondrodysplasias / Q000150:complications / Q000175:diagnosis*