Emrah CAN, Sinan USLU, Serdar CÖMERT, Fatih BOLAT, Asiye NUHOĞLU

Doğumsal Tibia Yokluğu: Vaka Sunumu

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

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,

PDF

___

Searle CP, Hildebrand RK, Lester EL, Caskey PM. Findings of fibular hemimelia syndrome with radiographically normal fibulae. J Pediatr Orthop 2004; 13:184-8.
reduction deficiencies of the lower limb. J Child Orthop 2008; 2:329-32.
Kimizuka M et al. A pair of sibs with tibial hemimelia born to phenotypically normal parents. J Hum Genet 2003; 48:173-6.
extremities: Femoral bifurcation, tibial hemimelia, and diasta- sis of the ankle. Case report and review of the literature. J Bone Joint Surg 1984; 66:453-8.
and cardiovascular defects. Clin Dysmorphol 2002; 11:163-9. deficiency. Lovell and Winter’s Pediatric orthopaedics, Lippincot Williams&Wilkins 2005: 1345-9.
Absence of the Tibia (Paraxial Hemimelia Tibia): A Preliminary Report. J Bone Joint Surg 1965; 47:695-704.
transfer for congenital absence of the tibia. J Pediatr Orthop 1993; 13:378-81.
ce of the tibia: a reassessment. J Pediatr Orthop 1987; 7(1):8- 13.
for knee flexion contaracture in patients with arthrogryposis. J Pediatr Orthop 1996; 16:122-6.
nal deficiency of the tibia. Int Ortoph 2003; 27:338-42.
Schoenecker PL, Capelli AM, Millar EA, Sheen MR, et al. Congenital longitudinal deficiency of the tibia. J Bone Joint Surg 1989; 71:278-87.