Parsiyel sakral agenezi ile birlikte Klippel-Feil sendromu
Klippel-Feil sendromu kısa boyun, boyun hareketlerinde kısıtlılık, düşük saç çizgisi ve vertebra anomalileri ile karakterizedir. Etiyolojisi tam olarak bilinmemektedir. Gerçek insidansı bilinmemekle birlikte 1142,000 oranında görüldüğü bildirilmektedir. Başlıca üç tipi olup sakral agenezinin eşlik ettiği yeni bir form Tip IV olarak tanımlan-mıştır. Yirmi günlük bebek havale geçirme, boyun kısalığı nedeni ile kliniğimize getirildi. Spinal manyetik rezonans görüntülemede; servikal vertebralarda displazi, yaygın hemiver-tebra ve bifid vertebra anomalileri, parsiyel sakral agenezi ve koksiks agenezisi mevcuttu. Klippel- Feil Sendromu, Tip IV olduğu düşünülen hasta nadir görülmesi nedeni ile sunulmuştur.
Klippel-Feil syndrome: Associated with partial sacral agenesis
Klippel-Feil syndrome is characterized by short neck, limited neck movements, low set hair line and vertebral abnormalites. The incidence of this syndrome is reported to be 1/42,000. Mainly three types are described. Type IV, associated with sacral agenesis is recently reported in the literature. A twenty days old newborn with short neck, cervical dysplasia, hemivertebra, bifid vertebra, partial sacral and coccyx agenesis is reported. All the findings were suggestive of type IV Klippel-Feil syndrome and the case was reported because of its rare occurence..
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