title: Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype.
abstract: The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facial features, skeletal manifestations and congenital hydronephrosis and/or hydroureter. We report a male infant with Schinzel-Giedion syndrome, also showing the karyotypic abnormality 47,XXY. Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy. Besides typical Schinzel-Giedion syndrome, our propositus was found to be affected by Klinefelter syndrome. This represents a fortuitous anomaly, which is probably of no importance in the phenotype of the patient.
authors.affiliation: Ege University Faculty of Medicine, Department of Pediatrics, Izmir, Turkey.
authors.forename: F F
authors.initials: FF
authors.lastname: Ozkinay
authors.forename: M
authors.initials: M
authors.lastname: Akisü
authors.forename: N
authors.initials: N
authors.lastname: Kültürsay
authors.forename: R
authors.initials: R
authors.lastname: Oral
authors.forename: N
authors.initials: N
authors.lastname: Tansug
authors.forename: G
authors.initials: G
authors.lastname: Sapmaz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D061085:Agenesis of Corpus Callosum; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003337:Corpus Callosum / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007829:Laryngostenosis / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome