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Schinzel-Giedion syndrome: report of two sibs
J Antich1, R Manzanares, F Camarasa
1Secció de Genètica, Hospital Sant Joan de Deu, Barcelona, Spain.
American Journal of Medical Genetics
|October 23, 1995
Abstract:
We report on two further cases, a sister and a brother, with Schinzel-Giedion syndrome. Both presented the following manifestations: "coarse face" with midface retraction, agenesis of corpus callosum, bilateral hydronephrosis, and typical skeletal anomalies. Patient 1 had a malignant sacrococcygeal teratoma. This is the third case of malignancy in this syndrome. Patient 2 died shortly after birth.