Şit UÇAR, Pelin ZORLU, Gülseren ŞAHİN, Miraç YILDIRIM

Üriner anomali ve işitme kaybının eşlik ettiği Klippel-feil sendromu

Klippel-Feil sendromu, iki veya daha fazla servikal omurganın segmentasyon yetersizliği ile karakterize konjenital anomalidir. Bu sendrom, kısa boyun, düşük saç çizgisi, boyun hareketlerinde kısıtlılığı içerir ve gebeliğin dört ve sekizinci haftalarında, normal servikal segmentasyondaki eksiklikten kaynaklanır. Etyolojisi bilinmez. Bu sendroma sıklıkla çeşitli sistemik anomaliler eşlik edebilir. Bu yüzden, Klippel-Feil sendromlu hastalar, servikal füzyon dışında çeşitli sistemik anomaliler açısından da değerlendirilmelidir. Klippel-Feil sendromu tanısı konulan bir aylık kız hasta, eşlik eden çeşitli sistemik anomaliler nedeniyle sunuldu.

Anahtar Kelimeler:

Ürogenital anomaliler, Doğumsal anormallikler, Klippel-Feil sendromu, İşitme kaybı, Kas-iskelet anomalileri

Klippel-Feil syndrome associated with urinary anomalies and hearing loss

Klippel-Feil syndrome is a congenital anomalia characterized by inadequed segmentation of two or more cervical spine. This syndrome includes short neck, low hair line, restriction of neck motion and arises from failure of the normal segmentation of cervical during the third and eighth weeks of gestation. Etiology is unknown. This syndrome is often attended various systemic anomalies. Therefore, patients with Klippel-Feil syndrome should be assessed for associated systemic abnormalities besides cervical fusion. We presented onemonth- old female patient who diagnosed Klippel-Feil syndrome and because of accompanied by various systemic anomalies.

Keywords:

Urogenital Abnormalities, Congenital Abnormalities, Klippel-Feil Syndrome, Hearing Loss, Musculoskeletal Abnormalities,

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