title: [Ocular signs in Rubinstein-Taybi's syndrome].
abstract: Rubinstein-Taybi syndrome, known also as "Broad Thumb-Hallux syndrome", was first recognized by Rubinstein and Taybi in 1963 and is characterized by somatic and ophthalmologic signs. Most commonly somatic changes are: broad thumbs and hallux, craniofacial dysmorphism, growth and psychomotor retardation. Most frequently reported eye anomalies are: antimongoloid slant of the palpebral fissures, strabismus, congenital obstruction of the lacrimal excretory system, colobomas of the iris and of the optic nerve head, ametropia.
authors.affiliation: Clinica i Oftalmologie, Spital SF. Spiridon Iaşi.
authors.forename: C
authors.initials: C
authors.lastname: Bogdănici
authors.forename: N
authors.initials: N
authors.lastname: Neamţu
authors.forename: C
authors.initials: C
authors.lastname: Rusu
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009344:Neisseria gonorrhoeae / Q000302:isolation & purification; D009878:Ophthalmia Neonatorum / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000382:microbiology; D012415:Rubinstein-Taybi Syndrome / Q000150:complications*; D016896:Treatment Outcome
chemical_list: D000900:Anti-Bacterial Agents
vernacular_title: Semne oculare în sindromul Rubinstein-Taybi.