Schinzel-Giedion syndrome and congenital megacalyces

T. E. Herman; D. A. Sweetser; W. H. McAlister; S. B. Dowton

doi:10.1007/BF02012399

Schinzel-Giedion syndrome and congenital megacalyces

T. E. Herman^*, D. A. Sweetser, W. H. McAlister, S. B. Dowton

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

23 Citations (Scopus)

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.

Original language	English
Pages (from-to)	111-112
Number of pages	2
Journal	Pediatric Radiology
Volume	23
Issue number	2
DOIs	https://doi.org/10.1007/BF02012399
Publication status	Published - Apr 1993
Externally published	Yes

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title = "Schinzel-Giedion syndrome and congenital megacalyces",

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.",

author = "Herman, {T. E.} and Sweetser, {D. A.} and McAlister, {W. H.} and Dowton, {S. B.}",

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AU - Herman, T. E.

AU - Sweetser, D. A.

AU - McAlister, W. H.

AU - Dowton, S. B.

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AB - 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.

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Schinzel-Giedion syndrome and congenital megacalyces

Abstract

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