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Báo cáo y học: "Congenital anterolateral tibial bowing and polydactyly: a case report."

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Congenital anterolateral tibial bowing and polydactyly: a case report. | Journal of Medical Case Reports BioMed Central Case report Open Access Congenital anterolateral tibial bowing and polydactyly a case report Edmond G Lemire Address Division of Medical Genetics Department of Pediatrics University of Saskatchewan Saskatoon SK S7N 0W8 Canada Email Edmond G Lemire - edmond.lemire@saskatoonhealthregion.ca Corresponding author Published 23 July 2007 Received 18 April 2007 Journal of Medical Case Reports 2007 1 54 doi 10.1186 1752-1947-1-54 Accepted 23 July 2007 This article is available from http www.jmedicalcasereports.eom content 1 1 54 2007 Lemire licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http creativecommons.org licenses by 2.0 which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. 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. Background 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 . However bowing of the tibia is not pathognomonic for NF1. Another uncommon condition congenital anterolateral tibial bowing and polydactyly CATBP presents in this manner 3 . CATBP is .