Three cases of the Rubinstein-Taybi syndrome are reported with special emphasis on ocular findings, and the literature is briefly summarized. Abnormalities common to all cases of the syndrome are motor and mental retardation, broad thumbs and toes, highly arched palate, and abnormalities of the eyes. These eye abnormalities include various combinations of antimongoloid slant, epicanthus, strabismus, cataract, refractive error, highly arched brows, and long lashes. The possibility of polygenic or multifactorial inheritance is raised.
Roy FH, Summitt RL, Hiatt RL, Hughes JG. Ocular Manifestations of the Rubinstein-Taybi Syndrome: Case Report and Review of the Literature. Arch Ophthalmol. 1968;79(3):272–278. doi:10.1001/archopht.1968.03850040274008
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: