Agenesis of the corpus callosum in Schinzel‐Giedion syndrome associated with 47, XXY karyotype
Makaleler > Tam Makale · 1996
Yazarlar: Feriştah Ferda ÖZKINAY, Mete AKISU, Nilgün Kültürsay, Resmiye Oral, Nermin Tansug, Gül Sapmaz
Clinical Genetics, Uluslararası, 1996, cilt 50, ss 145-148
DOI: 10.1111/j.1399-0004.1996.tb02369.x
Özet
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.