Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel‐phocomelia syndrome?
- 1 February 1996
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 49 (2) , 70-73
- https://doi.org/10.1111/j.1399-0004.1996.tb04330.x
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.Keywords
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