Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome?

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.

• Authors: N Evliyaoğlu, A K Temoçin, D U Altintaş, N Duman, N Satar, D Süleymanova
• Journal: Clinical genetics (Clin Genet) Vol. 49 Issue 2 Pg. 70-3 (Feb 1996) ISSN: 0009-9163 [Print] Denmark
• PMID: 8740915 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnostic imaging, genetics)
• Arm (abnormalities, diagnostic imaging)
• Ectromelia (diagnostic imaging, genetics)
• Female
• Fingers (abnormalities)
• Humans
• Infant, Newborn
• Skull (abnormalities, diagnostic imaging)
• Syndrome
• Urinary Tract (abnormalities)
• Urography