GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva

Clin Genet. 1997 Aug;52(2):110-5. doi: 10.1111/j.1399-0004.1997.tb02527.x.

Abstract

We report on a 3-year-old boy with growth retardation, alopecia, pseudoanodontia, and optic atrophy. This is the 18th known and the first Egyptian case of GAPO syndrome. Electron microscopic examination of gingival biopsy showed excessive collagen fibres and endothelial vacuolisation, suggesting involvement of extracellular pathological collagenosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / pathology*
  • Alopecia* / pathology
  • Anodontia / diagnostic imaging*
  • Anodontia / pathology
  • Child, Preschool
  • Egypt
  • Gingiva / diagnostic imaging
  • Gingiva / ultrastructure*
  • Growth Disorders* / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Optic Atrophy* / diagnostic imaging
  • Optic Atrophy* / pathology
  • Radiography
  • Syndrome