Presentation of a Noonan´syndrome case

Daniuby Pérez Aguedo; Yenny Pérez Recio; Josefina Chang Velázquez; Elisa Tamayo Lamothe; Dubichel Pérez Águedo; Jacqueline Machín Pérez

2018, Number 1

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Correo Científico Médico 2018; 22 (1)

Presentation of a Noonan´syndrome case

Pérez AD, Pérez RY, Chang VJ, Tamayo LE, Pérez AD, Machín PJ

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Language: Spanish
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Page: 162-168
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ABSTRACT

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.