An unusual presentation of Smith-Magenis syndrome with iris dysgenesis

Clin Dysmorphol. 1996 Apr;5(2):153-8. doi: 10.1097/00019605-199604000-00007.

Abstract

A boy who presented with iris dysgenesis is described. He was shown to have Smith-Magenis syndrome with a deletion of 17p11.2.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17*
  • DNA Probes
  • Eye Abnormalities / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Iris / abnormalities*
  • Karyotyping
  • Male
  • Phenotype
  • Syndrome

Substances

  • DNA Probes