| Literature DB >> 8740915 |
N Evliyaoğlu1, A K Temoçin, D U Altintaş, N Duman, N Satar, D Süleymanova.
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.Entities:
Mesh：
Year: 1996 PMID： 8740915 DOI： 10.1111/j.1399-0004.1996.tb04330.x
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438