Síndrome de Noonan: Presentación de dos casos Noonan's syndrome: Presentation of two cases

Abstract

Se presentan las características oftalmológicas y clínicas de dos pacientes hermanos (hembra y varón) con diagnóstico del síndrome de Noonan. Este es un trastorno genético que produce desarrollo anormal de múltiples partes del cuerpo. Se caracteriza por una serie de signos y particularidades físicas que pueden variar ampliamente en rango y severidad según los casos. Generalmente se transmite como un rasgo genético autosómico dominante. Los casos que presentamos se caracterizan por: estenosis valvular pulmonar, hipertelorismo, retardo mental moderado, aspecto típico de la cara con filtrum (surco vertical en el centro del labio superior), párpados gruesos, epicanto, exoftalmos y ptosis palpebral.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

Keywords

• Síndrome de Noonan
• genética
• anomalías múltiples
• manifestaciones oculares
• Noonan's syndrome
• genetics
• multiple anomalies
• ocular manifestations