[Ocular signs in Rubinstein-Taybi's syndrome].
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.
Bogdănici
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Clinica i Oftalmologie, Spital SF. Spiridon Iaşi.
Neamţu
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Rusu
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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
D000900:Anti-Bacterial Agents
Semne oculare în sindromul Rubinstein-Taybi.