Noonan Syndrome with Patellar LuxationFerhan Meriç, Handan Yükselgüngör, Yusuf İ. Ayhan, Sevil ÖzçayGöztepe SSK Hospital, Children Clinic, Istanbul
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. Keywords: Noonan syndrome, pulmonary stenosis, patellar luxation
Patella Luksasyonlu Bir Noonan SendromuFerhan Meriç, Handan Yükselgüngör, Yusuf İ. Ayhan, Sevil ÖzçayGöztepe SSK Eğitim Hastanesi, Çocuk Kliniği, İstanbul Anahtar Kelimeler: Noonan sendromu, pulmoner stenoz, patella luksasyonu
Ferhan Meriç, Handan Yükselgüngör, Yusuf İ. Ayhan, Sevil Özçay. Noonan Syndrome with Patellar Luxation. Medeniyet Med J. 2002; 17(1): 46-48
Corresponding Author: Ferhan Meriç, Türkiye |
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