Ocular signs in Rubinstein-Taybi's syndrome
Bogdănici, C.; Neamţu, N.; Rusu, C.
Oftalmologia 53(3): 26-30
2001
ISSN/ISBN: 1220-0875 PMID: 11915686 Document Number: 530447
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.