PHOCOMELIA, ECTRODACTYLY, SKULL DEFECT AND URINARY SYSTEM ANOMALY - SCHINZEL-PHOCOMELIA SYNDROME

Authors
EVLIYAOGLU N TEMOCIN AK ALTINTAS DU DUMAN N SATAR N SULEYMANOVA D
Citation
N. Evliyaoglu et al., PHOCOMELIA, ECTRODACTYLY, SKULL DEFECT AND URINARY SYSTEM ANOMALY - SCHINZEL-PHOCOMELIA SYNDROME, Clinical genetics, 49(2), 1996, pp. 70-73
Citations number
9
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
49
Issue
2
Year of publication
1996
Pages
70 - 73
Database
ISI
SICI code
0009-9163(1996)49:2<70:PESDAU>2.0.ZU;2-N
Abstract
This report describes a girl with phocomelia of the right upper limb, ectrodactyly, sacral hypoplasia and a large skull defect, but with nor mal growth and mental development. Ultrasonography and intravenous pye lography showed bilateral hydronephrosis and dilated ureters. We concl ude that this patient may represent Schinzel-phocomelia syndrome with additional urinary tract anomalies.