Uterine structural anomalies and arthrogryposis—death of an urban legend


  • Judith G. Hall OC, M.D., FRSC, FCAHS

    Corresponding author
    1. Departments of Medical Genetics and Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada
    • Departments of Medical Genetics and Pediatrics, University of British Columbia and British Columbia's Children's Hospital, 4500 Oak Street, Room C234, Vancouver, BC, Canada V6H 3N1.
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  • How to Cite this Article: Hall JG. 2012. Uterine structural anomalies and arthrogryposis—Death of an urban legend. Am J Med Genet Part A 161A:82–88.

  • The authors declare that they have no conflict of interest.


In a review of 2,300 cases of arthrogryposis collected over the last 35 years, 33 cases of maternal uterine structural anomalies were identified (1.3%). These cases of arthrogryposis represent a very heterogeneous group of types of arthrogryposis. Over half of individuals affected with arthrogryposis demonstrated asymmetry and some responded to removal of constraint, 29 of the 33 cases of arthrogryposis whose mother had a uterine structural anomaly could be identified as having a specific recognizable type of arthrogryposis. Only two cases (0.08%) had primarily proximal contractures that returned to almost normal function within 1 year. Craniofacial asymmetry was the most striking finding in these two cases. A quarter of cases had ruptured membranes between 32 and 36 weeks and either oligohydramnios or prematurity. The pregnancy histories of the mothers with uterine structural anomalies were typical in having infertility, multiple miscarriages, and stillbirths. The finding of only two cases which are likely to have multiple congenital contractures on the basis of uterine constraint suggests that it is a very rare primary cause of arthrogryposis. © 2012 Wiley Periodicals, Inc.