Schinzel-Giedion syndrome and congenital megacalyces.
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.
Herman
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Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Missouri 63110.
Sweetser
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McAlister
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WH
Dowton
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SB
D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D006801:Humans; D006869:Hydronephrosis / Q000151:congenital; D007223:Infant; D007670:Kidney Calices / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D014463:Ultrasonography