High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance

Acta Ophthalmol Scand. 2000 Apr;78(2):221-2. doi: 10.1034/j.1600-0420.2000.078002221.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Agenesis of Corpus Callosum*
  • Coloboma / genetics*
  • Consanguinity
  • Corpus Callosum / diagnostic imaging
  • Exophthalmos / genetics*
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Hypertelorism / genetics*
  • Infant
  • Iris / abnormalities*
  • Male
  • Myopia / genetics*
  • Tomography, X-Ray Computed