Doğumsal Tibia Yokluğu: Vaka Sunumu

Öz

Doğumsal tibia yokluğu, tibial hemimeli, rölatif olarak intakt fibula, tibia aplazi ve displazisinin eşlik ettiği ender bir konjenital bozukluktur. Prevalansı 1:1.000.000 canlı doğumdur. Unilateral veya bilateral görülebilmektedir. İzole bir bozukluk şeklinde veya karmaşık bir malformas- yonun parçası olarak görülebilmektedir. Etiyoloji belirsiz- dir. Birçok vaka sporadik olmakla birlikte, otozomal domi- nant veya otozomal resesif formları bildirilmiştir. Tanı kli- nik ve radyolojik bulgulara dayanır. Ultrason ile antenatal tanı olasıdır. Tibial hemilelinin ve eşlik eden özellikle ayak- taki malformasyonların ekinovarus, ayağın parsiyel dup- likasyonu cerrahi düzeltme ameliyatları temel yaklaşımı teşkil eder. Rekonstriktif cerrahi ve gelişime adapte edilmiş protezlerle birlikte post operatif düzenli izlem en uygun fonksiyonel sonucun kazanılmasında önemlidir

Anahtar Kelimeler

• Tibia,hemimeli,yenidoğan

Congenital Deficiency of the Tibia: Case Report

Öz

Congenital tibia deficiency is a rare congenital anomaly characterized by tibial hemimelia, a relatively intact fibu- la, tibial aplasia and dysplasia. Prevalence is estimated at 1 in 1,000,000 live births. Tibial hemimelia can be unilate- ral or bilateral. It may occur as an isolated anomaly, or as a part of a complex malformation syndrome. The etiology remains uncertain. Although the majority of cases with tibial hemimelia are sporadic, affected families with pos- sible autosomal dominant or autosomal recessive inheri- tance have been reported. Diagnosis is based on clinical and radiological findings. Prenatal diagnosis using ultra- sound is possible. Management requires surgical correcti- on of the tibial hemimelia and any associated malformati- ons, especially those concerning the foot equinovarus, partial duplication of the foot . Reconstructive surgery and a prosthesis adapted to growth, together with regular post- operative follow-up, are necessary for optimal functional results

Anahtar Kelimeler

• Tibia,hemimelia,newborn

Kaynakça

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