DeSanctis-Cacchione syndrome

Indian J Pediatr. 1997 Mar-Apr;64(2):269-72. doi: 10.1007/BF02752463.

Abstract

We report a case of DeSanctis-Cacchione Syndrome presenting with unusual features like early onset of cutaneous lesions and optic atrophy.

Publication types

  • Case Reports

MeSH terms

  • Atrophy
  • Cerebral Cortex / pathology
  • Child, Preschool
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Optic Atrophy / diagnosis
  • Optic Atrophy / genetics*
  • Syndrome
  • Tomography, X-Ray Computed
  • Xeroderma Pigmentosum / diagnosis
  • Xeroderma Pigmentosum / genetics*