title: [Ocular symptoms in Rubinstein-Taybi-Syndrome (author's transl)].
abstract: Two cases are reported with the following symptoms: broad thumbs and toes, typical facial abnormalities with beaked nose and hypertelorism. In addition the first child had microcornea, polycoria and subluxation lentis, the second a dacryostenosis. In both cases there were anomalies of refraction and strabismus. A detailed description of the classical findings is also included.
mesh_terms: D000015:Abnormalities, Multiple / Q000150:complications*; D000293:Adolescent; D002648:Child; D003394:Craniofacial Dysostosis / Q000175:diagnosis; D005132:Eye Manifestations; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D007767:Lacrimal Duct Obstruction / Q000175:diagnosis; D008297:Male; D012030:Refractive Errors / Q000175:diagnosis; D012415:Rubinstein-Taybi Syndrome / Q000150:complications*; D013285:Strabismus / Q000175:diagnosis
vernacular_title: Augensymptome beim Rubinstein-Taybi-Syndrome.