Abstract

PEREZ AGUEDO, Daniuby et al. Presentation of a Noonan´syndrome case. ccm [online]. 2018, vol.22, n.1, pp. 162-168. ISSN 1560-4381.

Introducing the case of a 6 years old girl diagnosed with Noonan´s syndrome. An approach to her physical characteristics, resembling Turner´s syndrome. Noonan´s syndrome is a genetic disorder. It is usually acquired by dominant autosomal genetic traits. In some cases variable expressions appear. In this particular case, ophthalmological characteristics such as: hyperthelorism, bilateral palpebral ptosis, thick eyelids, wide nasal bridge, small angle esotropia, and amblyopia were found. This girl was assisted at the Holguín´s Pediatric Hospital, in Cuba.

Keywords : Noonan´s syndrome; genetic; ophthalmological characteristics.

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