[Ocular symptoms in Rubinstein-Taybi-syndrome (author's transl)]

Klin Monbl Augenheilkd. 1975 Sep;167(3):478-83.
[Article in German]

Abstract

Report of 2 cases of Rubinstein-Taybi-syndrome. Description of the well known symptoms: Mental and somatic retardation, broad thumbs and toes, highly arched palate, retarded bone age, fine hair on limbs. Besides that there were eye abnormalities: Antimongoloid slant, strabismus, ametropia, monolateral ptosis, papillatrophia, latent nystagmus. Discussion of the differential diagnosis.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Cataract / diagnosis
  • Child
  • Diagnosis, Differential
  • Eye Manifestations*
  • Eyelids / abnormalities
  • Female
  • Humans
  • Nystagmus, Pathologic / diagnosis
  • Optic Atrophy / diagnosis
  • Refractive Errors / diagnosis
  • Rubinstein-Taybi Syndrome / diagnosis*
  • Strabismus / diagnosis