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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Congenital deficiency of the tibia: a report on 22 cases.

Congenital deficiency of the tibia (tibial hemimelia, aplasia, or dysplasia) is very rare, with an incidence of approximately 1 per 1 million live births. The disorder usually is accompanied by other congenital anomalies on the same limb or other parts of the body. A report is made of 22 limbs observed in 18 patients from 1970 to 1987 at San Juan de Dios Hospital in Caracas, Venezuela, with more than a 5-year follow-up. The report includes 11 girls and 7 boys, with observations of 11 left and 11 right tibiae. Familial antecedents were present in four patients: brother and sister and two brothers. According to the classification by Jones, Barnes, and Lloyd-Roberts, there were nine cases of type Ia, four of type Ib, three of type II, two of type III, and four of type IV. The foot of the affected limb was normal in only 12 cases. Treatment, always surgical, consisted of T/K amputation in 10 cases of types Ia and Ib, fibula pro tibia and B/K amputation in 1 case of type II, Syme amputations in 2 cases of type III, and astragalectomy and closure of diastasis in 4 cases of type IV deformity. Patients in five cases refused treatment. The sooner the amputation is performed, the easier and faster the rehabilitation and adaptation to the prosthesis. An early amputation is accepted by the child as a "congenital amputation."[1]


  1. Congenital deficiency of the tibia: a report on 22 cases. Fernandez-Palazzi, F., Bendahan, J., Rivas, S. Journal of pediatric orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America. (1998) [Pubmed]
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