[Ocular symptoms in Rubinstein-Taybi-syndrome (author's transl)].
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.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002386:Cataract / Q000175:diagnosis; D002648:Child; D003937:Diagnosis, Differential; D005132:Eye Manifestations; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006801:Humans; D009759:Nystagmus, Pathologic / Q000175:diagnosis; D009896:Optic Atrophy / Q000175:diagnosis; D012030:Refractive Errors / Q000175:diagnosis; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis*; D013285:Strabismus / Q000175:diagnosis
Augensymptomatik beim Rubinstein-Taybi-Syndrom