Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype

Clin Genet. 1996 Sep;50(3):145-8. doi: 10.1111/j.1399-0004.1996.tb02369.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Abnormalities, Multiple / physiopathology
  • Agenesis of Corpus Callosum*
  • Chromosome Aberrations*
  • Chromosome Disorders*
  • Corpus Callosum / pathology
  • Fatal Outcome
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Laryngostenosis / pathology
  • Magnetic Resonance Imaging
  • Male
  • Syndrome