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.
Similar content being viewed by others
References
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
Donnai D, Harris R (1979) A further case of a new syndrome including midface retraction, hypertrichosis and skeletal anomalies. J Med Genet 16: 483
Kelley RI, Zachai EH, Charmey EB (1982) Congenital hydronephrosis, skeletal dysplasia and severe developmental retardation: the Schinzel-Giedion syndrome. J Pediatr 100: 943
Pul M, Nuran Y, Komsuoglu B (1990) The Schinzel-Giedion syndrome. Clin Pediatr 29: 235
Kimsche D, Lask D (1982) Megacalycosis. Urology 19: 478
Talner LB, Gittes RF (1972) Megacalyces. Clin Radiol 23: 355
Vargas B, Lebowitz RL (1986) Coexistence of congenital megacalyces and primary megaureter. AJR 147: 313
Lam AH (1988) Familial megacalyces with autosomal recessive inheritance. Pediatr Radiol 19: 28
Kozakewich HPW, Lebowitz RL (1974) Congenital megacalyces. Pediatr Radiol 2: 251
Author information
Authors and Affiliations
Rights 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
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02012399