Colobomata of the iris, ciliary body and choroid in an infant with oesophago-tracheal fistula and congenital heart defects. An unknown malformation complex

Acta Paediatr Scand. 1980 May;69(3):427-30. doi: 10.1111/j.1651-2227.1980.tb07106.x.

Abstract

A malformation pattern, not previously reported consisting of microphthalmia, uveal coloboma, oesophago-tracheal fistula and congenital heart defects is presented. The phaenotypical similarity and difference from previously reported cases are discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / pathology
  • Choroid / abnormalities
  • Choroid / pathology
  • Chromosome Inversion
  • Chromosomes, Human, 6-12 and X
  • Ciliary Body / abnormalities
  • Ciliary Body / pathology
  • Coloboma / pathology*
  • Heart Defects, Congenital / pathology*
  • Humans
  • Infant, Newborn
  • Iris / abnormalities
  • Iris / pathology
  • Male
  • Microphthalmos / pathology
  • Neurofibromatosis 1 / congenital
  • Tracheoesophageal Fistula / congenital