Revista Cubana de Oftalmología
versión On-line ISSN 1561-3070
PONS CASTRO, Lucy et al. Noonan's syndrome: Presentation of two cases. Rev Cubana Oftalmol [online]. 2009, vol.22, n.1, pp. 0-0. ISSN 1561-3070.
The ophthalmological and clinical characteristics of two sibling patients (male and female) diagnosed with Noonan´s syndrome were presented in this paper. This is a genetic disorder that causes abnormal development of many parts of the body. It is characterized by a series of signs and physical peculiarities that may widely vary in range and severity from one case to another. Generally, it is transmitted as a dominant autosomal genetic trait. The two cases had the following features: pulmonary valve stenosis, hypertelorism, moderate mental retardation, typical aspect of the individual's face with filtrum (vertical sulcus located in the center of the upper lip), thick eyelids, epicanthus, exophthalmos and palpebral ptosis
Palabras llave : Noonan's syndrome; genetics; multiple anomalies; ocular manifestations.