AGENESIS OF THE CORPUS-CALLOSUM IN SCHINZEL-GIEDION SYNDROME-ASSOCIATED WITH 47,XXY KARYOTYPE

The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facial features, skeletal manifestations and congenital h ydronephrosis and/or hydroureter. We report a male infant with Schinze l-Giedion syndrome, also showing the karyotypic abnormality 47,XXY. Ag enesis of the corpus callosum and laryngeal stenosis were determined a t autopsy. Besides typical Schinzel-Giedion syndrome, our propositus w as found to be affected by Klinefelter syndrome. This represents a for tuitous anomaly, which is probably of no importance in the phenotype o f the patient.