Schinzel-Giedion syndrome: report of two sibs

Am J Med Genet. 1995 Oct 23;59(1):96-9. doi: 10.1002/ajmg.1320590119.


We report on two further cases, a sister and a brother, with Schinzel-Giedion syndrome. Both presented the following manifestations: "coarse face" with midface retraction, agenesis of corpus callosum, bilateral hydronephrosis, and typical skeletal anomalies. Patient 1 had a malignant sacrococcygeal teratoma. This is the third case of malignancy in this syndrome. Patient 2 died shortly after birth.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Face / abnormalities*
  • Family
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Sacrococcygeal Region*
  • Syndrome
  • Teratoma / genetics*