Özet:

NS is characterised with typical phenotipic features, mild mental retardation, short stature, congenital heart diseases (especially valvular pulmonary stenosis) and usually transmitted sporadically. An 11 years old male patient was admitted to our hospital with bilateral knee pain. On the physical examination he had short neck, low located ears, down slanting palpebral fissures, hypertelorism, micrognathia, high palate and low, widely spaced nipples. On auscultation 2/6 systolic ejection murmur was heard over the pulmonic area. He was mildly mentally retarded. Bilateral patella luxation and spina bifida on L4-5, L5-S1 were diagnosed by direct X-ray roentgenograms. ECG showed rSR’ complex in V1, V2 waves. Echocardiographic examination revealed mild pulmonary valvular stenosis. The audiologic evaluation showed sensorineural hearing loss of the right ear. Genetic consultation confirmed the diagnosis of NS. To our knowledge, this is the first case of NS reported with bilateral patellar luxation.

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