Revista Cubana de Oftalmología
On-line version ISSN 1561-3070
PONS CASTRO, Lucy et al. The Rubistein-Taybi syndrome. Rev Cubana Oftalmol [online]. 2009, vol.22, n.1, pp. 0-0. ISSN 1561-3070.
The ophthalmologic and clinical characteristics of a patient with Rubistein-Taybi syndrome were presented. This is considered one of the genetic syndromes and is based on chromosome 16 failure. The presentation of this syndrome is rather unusual and barely known since the fundamental characteristics that differentiate it are big thick toes, big thumbs, hirsutism, microcephaly, small narrow mouth full of packed teeth, prominent nose, raised and hairy eyebrows, long eyelash and palpebral inclination of eyes.
Keywords : Rubistein-Taybi syndrome; Rubistein-Taybi syndrome; multiple anomalies; girl; ocular manifestations.