Rubinstein-Taybi Syndrome 1
General: Inheritance polygenic or multifactorial; rare.
Ocular: Antimongoloid slant of lid fissure; epicanthus; long eyelashes and highly arched brows; strabismus; myopia; hyperopia; iris coloboma; cataract; optic atrophy; ptosis; retinal detachment.
Clinical: Motor and mental retardation; broad thumbs and toes; highly arched palate; allergies; heart murmurs; anomalies of size, shape, and position of ears; dwarfism; cryptorchidism.
Critchley LA, Gin T, Stuart JC. Anaesthesia in an infant with Rubinstein-Taybi syndrome. Anaesthesia 1995; 50:37-38.
Larned DC, et al. Association of congenital ptosis and congenital heart disease. Ophthalmology 1986; 93:492-494.
Marcus-Harel T, et al. Retinal detachment with high myopia in the Rubinstein-Taybi syndrome. Metab Pediatr Syst Ophthalmol 1991; 14:53-56.
Maurer I, Regensburger D, Bernhard A. Aortic valve reconstruction in Rubinstein- Taybi syndrome: the valuable aid of transesophageal echocardiography. J Cardiovasc Surg (Torino) 1991; 32:327-329.
Roy FH, et al. Ocular manifestations of the Rubinstein-Taybi syndrome. Arch Ophthalmol 1968; 79:272.
Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. Am J Dis Child 1963; 105:588.
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