Congenital tibial deficiency: a 37-year experience at 1 institution

The purpose of this study is to evaluate all cases of tibial deficiency seen at a single institution from 1975 to 2012, to classify these cases by the Jones classification if possible, to evaluate for associated anomalies, and to review the surgical treatments provided to these patients.

Ninety-five patients (125 extremities) treated at our institution between 1975 and 2012 with tibial deficiency had complete records allowing for classification and review of full treatment course. These patients' records and imaging were retrospectively reviewed for any associated anomalies, surgical treatment performed, and limb deformity characterized by the Jones classification where possible.

Seventy-three of 125 limbs (58%) were classified as Jones type 1A, 6 (5%) as type 1B, 18 (14%) as type 2, and 12 (10%) as type 4. Two limbs initially classified radiographically as type 3 deformities subsequently developed a proximal tibia epiphyses and thus did not represent true type 3 deformities. Fourteen limbs (11%) were characterized by global tibial deficiency but with proximal and distal epiphyses and could not be classified according to the Jones classification. Seventy-five of the 95 patients (79%) had associated anomalies. Other lower extremity anomalies were most frequent; however, upper extremity, spine, and visceral anomalies were also noted.

True type 3 deformity as described by Jones was not seen in our patient population; all patients developed a proximal epiphysis. Therefore, this group may be better served by limb salvage than amputation. Fourteen (11%) limbs, characterized by global tibia shortening relative to the fibula of variable degree, could not be classified according to the Jones classification. We propose adding this group as a new group within the Jones classification, which we call type 5. Finally, in this patient population, the Brown procedure for type 1 tibial deficiency universally failed, confirming results of prior studies.

This is a level IV study, a retrospective review of 95 patients with tibial deficiency from a single institution.