Abstract

Congenital anterolateral bowing of the tibia is a rare deformity that may lead to pseudarthrosis and risk of fracture. This is commonly associated with neurofibromatosis type 1. In this report, we describe a 15-month old male with congenital anterolateral bowing of the right tibia and associated hallux duplication. This is a distinct entity with a generally favourable prognosis that should not be confused with other conditions such as neurofibromatosis type 1. Previously published cases are reviewed.

Highlights

  • Neurofibromatosis type 1 (NF1) is a common genetic disease with a prevalence of 1 in 3000 individuals in the general population [1]

  • With NF1 being a relatively common condition, it is not unusual to consider it in the differential diagnosis when a case of anterolateral tibial bowing is identified in a child as this is an associated feature that can progress to pseudarthrosis and a high risk of fracture [1,2]

  • We describe a 15-month old boy with congenital anterolateral tibial bowing and polydactyly (CATBP) who was unnecessarily investigated because of concerns regarding NF1

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Summary

Background

Neurofibromatosis type 1 (NF1) is a common genetic disease with a prevalence of 1 in 3000 individuals in the general population [1]. It was observed that he had a right lower limb deformity consisting of medial splaying and duplication of the hallux with mild anterolateral bowing of the ipsilateral tibia [Figure 1]. Radiographs at age 4 months identified a healing greenstick fracture of the right tibial mid-shaft and a straight fibula. Radiographs taken subsequently when the child was older suggested possible duplication of the medial cuneiform [Figure 2] He was assessed by the pediatric neurologist at age 7 months. There were no stigmata of NF1 present on examination and his family history was negative for any neurocutaneous disorders No stigmata of a neurocutaneous disorder were present His development was otherwise normal and he had been ambulating since age 12 months while wearing a cast following surgery. GFirgeuernest2ick type fracture of the mid-shaft of right tibia Greenstick type fracture of the mid-shaft of right tibia

Discussion
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