Oculodental digital dysplasia: neuroimaging in a kindred

Neuroradiology. 1996 Jan;38(1):84-6. doi: 10.1007/BF00593230.

Abstract

Oculodental digital dysplasia (ODDD) is an uncommon inherited disorder with characteristic facial abnormalities, defects in dentition and syndactyly; previous reports have described neurologic dysfunction. We present neuroimaging features of a mother and daughter with ODDD; despite only the mother having neurologic dysfunction, the MRI findings in both are strikingly similar.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Brain / pathology*
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Dental Enamel Hypoplasia / diagnosis
  • Dental Enamel Hypoplasia / genetics*
  • Female
  • Genes, Dominant / genetics
  • Humans
  • Magnetic Resonance Imaging*
  • Microphthalmos / diagnosis
  • Microphthalmos / genetics*
  • Neurologic Examination
  • Syndactyly / diagnosis
  • Syndactyly / genetics*
  • Syndrome