Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia

Am J Med Genet. 2002 Nov 15;113(1):111-3. doi: 10.1002/ajmg.10713.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adipose Tissue / pathology
  • Alopecia / genetics
  • Biopsy
  • Blepharoptosis / genetics
  • Bone Diseases, Metabolic / genetics
  • Cerebellar Ataxia / genetics
  • Child
  • Ectodermal Dysplasia / genetics*
  • Eyebrows / abnormalities*
  • Humans
  • Joint Diseases / genetics
  • Male
  • Nystagmus, Pathologic / genetics
  • Phenotype
  • Skin / pathology
  • Strabismus / genetics
  • Syndrome