Doğumsal Tibia Yokluğu: Vaka Sunumu

Year 2009, Volume: 9 Issue: 4, 205 - 207, 01.10.2009

Emrah Can Sinan Uslu Serdar Cömert Fatih Bolat Asiye Nuhoğlu

Abstract

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

Keywords

Tibia, hemimeli, yenidoğan

Congenital Deficiency of the Tibia: Case Report

Abstract

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

Keywords

Tibia, hemimelia, newborn

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