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

Clin Genet. 1996 Feb;49(2):70-3. doi: 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.

Publication types

  • Case Reports

MeSH terms

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