Abstract
We describe a female infant with the Schinzel-Giedion syndrome. Features present in 11 patients include coarse face, midface retraction, urogenital anomalies, poor skull vault mineralisation and variable anomalies of the long bones. Outcome is poor and mental retardation is the rule among survivors. Prenatal diagnosis seems unreliable. Facial features change dramatically with age and diagnosis is likely to be easily missed beyond the neonatal period. No metabolic defect has been detected. Inheritance is probably autosomal recessive.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
al-Gazali LI, Farndon P, Burn J, Flannery DB, Davison C, Mueller RF (1989) Schinzel-Giedion syndrome. J Med Genet 27:42–47
Donnai D, Harris R (1979) A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies. J Med Genet 16:483–486
Kelley RI, Zackai EH, Charney EB (1982) Congenital hydronephrosis, skeletal dysplasia and severe developmental retardation: the Schinzel-Giedion syndrome. J Pediatr 100:943–946
Saal HM, Rosenbaum KN, Samango-Sprouse C (1989) The Schinzel-Giedion syndrome: insight into phenotype and natural history (abstract). Pediatr Res 25/4(2):78A
Schinzel A, Giedion A (1978) A syndrome of severe midface retraction, multiple skull anomalies, club feet, and cardiac and renal malformations in sibs. Am J Med Genet 1:361–375
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Verloes, A., Moës, D., Palumbo, L. et al. Schinzel-Giedion syndrome. Eur J Pediatr 152, 421–423 (1993). https://doi.org/10.1007/BF01955902
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01955902