Síndrome de Noonan: relato de caso

Abstract

1 Residente de Oftalmologia (2º ano) da FAMEPP/ UNOESTE.

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“…Therefore, despite being a syndrome of difficult diagnosis due to its clinical variability , it is essential to do its investigation properly, because the prognosis and management of cases are distinct and influence the quality of life and survival of the patient (RODRIGUES et al, 2017) As mentioned before, it is a syndrome with a wide variability of clinical manifestations, among them: short stature, bone alterations, dental malocclusion, low ear implantation, wide nasal base, pterigium colli (winged neck), pulmonary valve stenosis, lymphatic dysplasia, mental retardation, short neck, hepatosplenomegaly, hearing problems, altered coagulogram, cryptorchidism, dermatological alterations, renal and cardiac abnormalities (DIAS et al, 2004).…”

“…As the major cause of morbimortality in this disease is caused by cardiac alterations, the greatest concern should be related to the cardiological aspects (DIAS et al, 2004). Thus, it is recommended that all patients undergo cardiological evaluation by a specialist at the time of diagnosis, in addition to the performance of chest radiography, ECG and echocardiogram (RODRIGUES et al, 2017).…”

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“…At the moment, the diagnosis is clinical-genetic (DIAS et al, 2004) made through a simple and efficient system created by van der Burgt and collaborators in 1994 based on the scoring of major and minor criteria that considers the clinical variability present in Noonan Syndrome .…”

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“…When there is clinical suspicion of Noonan Syndrome, there is also the possibility of molecular DIAS et al, 2004).…”