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Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980–2012
Authors:Tanya Bedard  R Brian Lowry  Barbara Sibbald  Susan Crawford  Gerhard N Kiefer
Institution:1. Alberta Congenital Anomalies Surveillance System, Alberta Health, Alberta Children's Hospital, Calgary, Alberta, Canada;2. Departments of Pediatrics and Medical Genetics, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada;3. Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada;4. Alberta Perinatal Health Program, Calgary, Alberta, Canada;5. Department of Surgery, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada
Abstract:There is a wide range of the proportion of congenital anomalies associated with limb deficiencies reported in the literature. This variation is primarily attributed to methodology and classification differences. The distribution of associated anomalies among cases with congenital limb deficiencies in Alberta born between January 1, 1980 and December 31, 2012 is described. Of the 170 cases identified, most were live born (75.3%), male (61.8%), had longitudinal limb deficiencies (78.8%), and had associated anomalies outside the musculoskeletal system (77.6%). Significant associations between the preaxial longitudinal group and the central nervous, gastrointestinal, and cardiovascular systems are reported as well as between the postaxial longitudinal group and congenital hip and foot anomalies. Probable and possible syndrome diagnoses are described for cases with recognized malformation patterns.
Keywords:associated major congenital anomalies  congenital limb deficiency  etiology
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