New case of Bartsocas-Papas syndrome surviving at 20 months

Am J Med Genet. 1992 Mar 1;42(5):733-5. doi: 10.1002/ajmg.1320420522.

Abstract

We report on patient with Bartsocas-Papas syndrome surviving at age 20 months. Similar to 7 previously reported families, this patient is of Mediterranean ancestry, pointing to clustering of the responsible mutant gene in Southern Europe. In 3 of the 11 Bartsocas-Papas syndrome patients described so far, including the present case, the condition has not been neonatally lethal. This suggests that about one-fourth of these patients could survive. This information is important for genetic counseling.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Eyelids / abnormalities*
  • Face / abnormalities*
  • Genes, Recessive / genetics*
  • Humans
  • Infant
  • Infant, Low Birth Weight
  • Infant, Newborn
  • Limb Deformities, Congenital*
  • Male
  • Syndrome