Three new cases of the Schinzel-Giedion syndrome and review of the literature
Article first published online: 3 JUN 2005
Copyright © 1994 Wiley-Liss, Inc., A Wiley Company
American Journal of Medical Genetics
Volume 50, Issue 1, pages 90–93, 1 March 1994
How to Cite
Labrune, P., Lyonnet, S., Zupan, V., Imbert, M.-C., Goutieres, F., Hubert, P. and Le Merrer, M. (1994), Three new cases of the Schinzel-Giedion syndrome and review of the literature. Am. J. Med. Genet., 50: 90–93. doi: 10.1002/ajmg.1320500120
- Issue published online: 3 JUN 2005
- Article first published online: 3 JUN 2005
- Manuscript Revised: 2 OCT 1993
- Manuscript Received: 23 APR 1993
- Schinzel-Giedion syndrome;
- midface hypoplasia;
- skeletal dysplasia
Three fetuses with normal chromosomes were found to have uni- or bilateral hydronephrosis during the third trimester of pregnancy. At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. Skeletal radiographs showed delayed bone maturation, broad and dense ribs, and a wide synchondrosis between the exoccipital and supraoccipital bones. The combination of such findings suggested the diagnosis of Schinzel-Giedion syndrome. Two patients died soon after birth, whereas the third one developed severe mental and motor retardation with seizures and spasticity, and died at 18 months.
Schinzel-Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. So far, 13 well-documented cases have been reported allowing major and minor traits of the syndrome to be distinguished. Since no genetic marker is available, the prenatal diagnosis of Schinzel-Giedion syndrome relies on ultrasound examination, especially detection of renal abnormalities. © 1994 Wiley-Liss, Inc.