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Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome?
N Evliyaoğlu1, A K Temoçin, D U Altintaş
1Department of Pediatrics, Faculty of Medicine, University of Cukurova, Adana, Turkey.
Clinical Genetics
|February 1, 1996
Abstract:
This report describes a girl with phocomelia of the right upper limb, ectrodactyly, sacral hypoplasia and a large skull defect, but with normal growth and mental development. Ultrasonography and intravenous pyelography showed bilateral hydronephrosis and dilated ureters. We conclude that this patient may represent Schinzel-phocomelia syndrome with additional urinary tract anomalies.