Recurrence of orbital cysts in the branchio-oculo-facial syndrome

J Med Genet. 1992 Jun;29(6):430-1. doi: 10.1136/jmg.29.6.430.

Abstract

Two sibs with the branchio-oculo-facial syndrome are reported. They both have orbital haemangiomatous cysts, which is a previously unreported feature. Both parents are clinically normal and unrelated. This disorder has been reported showing autosomal dominant transmission so this family could represent either an autosomal recessive form or germline mosaicism for the dominant gene.

Publication types

  • Case Reports

MeSH terms

  • Cysts / genetics
  • Cysts / pathology*
  • Female
  • Hemangioma / genetics
  • Hemangioma / pathology*
  • Humans
  • Infant, Newborn
  • Male
  • Neoplasm Recurrence, Local
  • Orbital Neoplasms / genetics
  • Orbital Neoplasms / pathology*
  • Syndrome