Phocomelia, oligodactyly, and acrania: the Schinzel-Phocomelia syndrome

Am J Med Genet. 1993 Feb 1;45(3):297-9. doi: 10.1002/ajmg.1320450304.

Abstract

We report on a girl born with phocomelia of both lower limbs, with 3-toed feet and partial sacral agenesis. She had normal growth of the upper limbs and trunk, and normal intelligence. Ultrasound study performed during the subsequent pregnancy documented a large skull defect with an intact brain. Fetal autopsy following the termination of that pregnancy was not done. We think this is a further report of the phocomelia syndrome with additional anomalies as reported by Schinzel [Hum Genet 84:539-541, 1990].

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Child, Preschool
  • Ectromelia / genetics*
  • Ectromelia / pathology
  • Female
  • Humans
  • Pregnancy
  • Skull / abnormalities*
  • Syndrome
  • Toes / abnormalities*
  • Ultrasonography, Prenatal