Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980–2012

• Published in: American journal of medical genetics. Part A 2018-01, Vol.176 (1), p.19-28
• Main Authors: Bedard, Tanya, Lowry, R. Brian, Sibbald, Barbara, Crawford, Susan, Kiefer, Gerhard N.
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple; Alberta - epidemiology; associated major congenital anomalies; Congenital defects; congenital limb deficiency; etiology; Hip; History, 20th Century; History, 21st Century; Humans; Limb Deformities, Congenital - diagnosis; Limb Deformities, Congenital - epidemiology; Live Birth; Musculoskeletal system; Population Surveillance; Registries; Syndrome
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.38513

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.