Ocular manifestations of chromosome 14 terminal deletion

J Pediatr Ophthalmol Strabismus. 2006 Mar-Apr;43(2):104-6. doi: 10.3928/0191-3913-20060301-11.

Abstract

A boy with chromosome 14 terminal (14q32.3) deletion presented with typical facial dysmorphism, mental retardation, and hypotonia. Ocular examination revealed esotropia, jerk nystagmus, microcornea, and retinal-choroidal colobomas. We report the first case of microcorneas and colobomas in association with chromosome 14 terminal deletion to help further define this clinical syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Child, Preschool
  • Choroid / abnormalities
  • Choroid / diagnostic imaging
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 14 / genetics*
  • Coloboma / diagnostic imaging
  • Coloboma / genetics
  • Cornea / abnormalities
  • Esotropia / genetics*
  • Eye Abnormalities / diagnostic imaging
  • Eye Abnormalities / genetics*
  • Face / abnormalities
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Nystagmus, Pathologic / genetics*
  • Retina / abnormalities
  • Retina / diagnostic imaging
  • Syndrome
  • Ultrasonography