Skip to main content
Log in

Schinzel-Giedion syndrome and congenital megacalyces

  • Originals
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in the Schinzel-Giedion syndrome.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Schinzel A, Giedion A (1978) A syndrome of severe midface retraction, multiple skull anomalies, clubfeet and cardiac and renal malformations in sibs. Am J Med Genet 1: 361

    PubMed  Google Scholar 

  2. Donnai D, Harris R (1979) A further case of a new syndrome including midface retraction, hypertrichosis and skeletal anomalies. J Med Genet 16: 483

    PubMed  Google Scholar 

  3. Kelley RI, Zachai EH, Charmey EB (1982) Congenital hydronephrosis, skeletal dysplasia and severe developmental retardation: the Schinzel-Giedion syndrome. J Pediatr 100: 943

    PubMed  Google Scholar 

  4. Pul M, Nuran Y, Komsuoglu B (1990) The Schinzel-Giedion syndrome. Clin Pediatr 29: 235

    Google Scholar 

  5. Kimsche D, Lask D (1982) Megacalycosis. Urology 19: 478

    PubMed  Google Scholar 

  6. Talner LB, Gittes RF (1972) Megacalyces. Clin Radiol 23: 355

    Google Scholar 

  7. Vargas B, Lebowitz RL (1986) Coexistence of congenital megacalyces and primary megaureter. AJR 147: 313

    PubMed  Google Scholar 

  8. Lam AH (1988) Familial megacalyces with autosomal recessive inheritance. Pediatr Radiol 19: 28

    PubMed  Google Scholar 

  9. Kozakewich HPW, Lebowitz RL (1974) Congenital megacalyces. Pediatr Radiol 2: 251

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Herman, T.E., Sweetser, D.A., McAlister, W.H. et al. Schinzel-Giedion syndrome and congenital megacalyces. Pediatr Radiol 23, 111–112 (1993). https://doi.org/10.1007/BF02012399

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02012399

Keywords

Navigation