Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome

Am J Med Genet. 1992 Aug 1;43(6):929-31. doi: 10.1002/ajmg.1320430604.

Abstract

We report on a Brazilian boy with Rubinstein-Taybi syndrome (RTS) with callosal agenesis, iris coloboma, and megacolon. To our knowledge, callosal agenesis, iris coloboma, and megacolon are unusual signs within the clinical spectrum of RTS, and the present association is apparently underscribed.

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum*
  • Child
  • Coloboma / complications*
  • Corpus Callosum / diagnostic imaging
  • Hirschsprung Disease / complications*
  • Hirschsprung Disease / diagnostic imaging
  • Humans
  • Iris / abnormalities*
  • Male
  • Phenotype
  • Radiography
  • Rubinstein-Taybi Syndrome / complications*
  • Rubinstein-Taybi Syndrome / pathology