Congenital Radioulnar Synostosis

Living reference work entry

Abstract

Although congenital proximal radioulnar synostosis is an uncommon malformation of the upper extremity, first described by Sandifort in 1973 (Simmons et al. 1983), congenital radioulnar synostosis (RUS) is the most common congenital functional disorder of the elbow joint (Siemianowicz et al. 2010). In most cases, RUS is an isolated defect involving only one limb. However, bilateral RUS is usually familial and affects males more than females (Figs. 1–3).

Keywords

Thrombocytopenia Thalidomide Craniosynostosis Synostosis Syndactyly 

References

  1. Bauer, M., & Jonsson, K. (1988). Congenital radioulnar synostosis. Scandinavian Journal of Plastic and Reconstructive Surgery, 22, 251–258.CrossRefGoogle Scholar
  2. Cenani, A., & Lenz, W. (1967). Totale Syndaktylie und totale radioulnare Synostose bie zwei Bruedern. Ein Beitrag zur Genetik der Syndaktylien. Ztschr Kinderheilk, 101, 181–190.CrossRefGoogle Scholar
  3. Cleary, J. E., & Omer, G. E., Jr. (1985). Congenital proximal radio-ulnar synostosis. Natural history and functional assessment. Journal of Bone and Joint Surgery (American), 67, 539–545.Google Scholar
  4. Davenport, C. B., Taylor, H. L., & Nelson, L. A. (1924). Radio-ulnar synostosis. Archives of Surgery, 8, 705–762.CrossRefGoogle Scholar
  5. De Smet, L., & Fryns, J. P. (2008). Unilateral radio-ulnar synostosis and idic-Y chromosome. Genetic Counseling, 19, 425–427.PubMedGoogle Scholar
  6. Elliott, A. M., Kibria, L., & Reed, M. H. (2010). The developmental spectrum of proximal radioulnar synostosis. Skeletal Radiology, 39, 49–54.CrossRefPubMedGoogle Scholar
  7. Froster, U. G., & Baird, P. A. (1992). Congenital defects of the limbs and alcohol exposure in pregnancy: Data from a population based study. American Journal of Medical Genetics, 44, 782–785.CrossRefPubMedGoogle Scholar
  8. Hansen, O. H., & Andersen, N. O. (1970). Congenital radio-ulnar synostosis: Report of 37 cases. Acta Orthopaedica Scandinavica, 41, 225–230.CrossRefPubMedGoogle Scholar
  9. Karatosun, V., Gunal, I., Manisali, M., et al. (2004). Congenital radioulnar synostosis: A case report of a probable subtype. Journal of Orthopaedic Science, 9, 314–316.CrossRefPubMedGoogle Scholar
  10. Kasten, P., Rettig, O., Loew, M., et al. (2009). Three-dimensional motion analysis of compensatory movements in patients with radioulnar synostosis performing activities of daily living. Journal of Orthopaedic Science, 14, 307–312.CrossRefPubMedGoogle Scholar
  11. Kidszun, A., Fuchs, A.-J., Russo, A., et al. (2012). Skeletal abnormalities of the upper limbs – Neonatal diagnosis of 49, XXXXY syndrome. Gene, 508, 117–120.CrossRefPubMedGoogle Scholar
  12. Lewis, W. (1901). The development of the arm in man. The American Journal of Anatomy, 1, 169–183.Google Scholar
  13. Martini, G., Carillo, G., Catizone, F., et al. (1993). On the parental origin of the X’s in a prenatally diagnosed 49, XXXXX syndrome. Prenatal Diagnosis, 13, 763–766.CrossRefPubMedGoogle Scholar
  14. Mital, M. A. (1976). Congenital radioulnar synostosis and congenital dislocation of the radial head. The Orthopedic Clinics of North America, 7, 375–383.PubMedGoogle Scholar
  15. Mostert, A. K., & Tulp, J. A. (2002). Congenital synostosis of the proximal forearm. Current Orthopaedics, 16, 395–397.CrossRefGoogle Scholar
  16. Murase, T., Tada, K., Yoshida, T., et al. (2003). Derotational osteotomy at the shafts of the radius and ulna for congenital radioulnar synostosis. Journal of Hand Surgery (British), 28A, 133–137.CrossRefGoogle Scholar
  17. Rizzo, R., Lammer, E. J., Parano, E., et al. (1991). Limb reduction defects in humans associated with prenatal isotretinoin exposure. Teratology, 44, 599–604.CrossRefPubMedGoogle Scholar
  18. Rizzo, R., Pavone, V., Corsello, G., et al. (1997). Autosomal dominant and sporadic radio-ulnar synostosis. American Journal of Medical Genetics, 68, 127–134.CrossRefPubMedGoogle Scholar
  19. Sachar, K., Akelman, E., & Ehrlich, M. G. (1994). Radioulnar synostosis. Hand Clinics, 10, 399–404.PubMedGoogle Scholar
  20. Siemianowicz, A., Wawrzynek, W., & Besler, K. (2010). Congenital radioulnar synostosis – Case report. Polish Journal of Radiology, 75, 51–54.PubMedCentralPubMedGoogle Scholar
  21. Simmons, B. P., Southmayd, W. W., & Riseborough, E. J. (1983). Congenital radioulnar synostosis. Journal of Hand Surgery. American Volume, 8, 829–838.CrossRefGoogle Scholar
  22. Smithells, R. W., & Newman, C. G. H. (1992). Recognition of thalidomide defects. Journal of Medical Genetics, 29, 716–723.PubMedCentralCrossRefPubMedGoogle Scholar
  23. Spritz, R. A. (1978). Familial radioulnar synostosis. Journal of Medical Genetics, 15, 160–162.PubMedCentralCrossRefPubMedGoogle Scholar
  24. Syed, A. A., & Quinton, R. (2008). Congenital radioulnar synostosis, azoospermia, and pseudodicentric Y chromosome. Fertility and Sterility, 90, 425–426.CrossRefPubMedGoogle Scholar
  25. Thompson, A. A., & Nguyen, L. T. (2000). Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nature Genetics, 26, 397–398.CrossRefPubMedGoogle Scholar
  26. VanHeest, A. E., Lin, T. E., & Bohn, D. (2013). Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: A case series. Journal of Pediatric Orthopedics, 33, 540–543.CrossRefPubMedGoogle Scholar
  27. Wilkie, D. (1914). Congenital radio-ulnar synostosis. British Journal of Surgery, 1, 366–375.CrossRefGoogle Scholar
  28. Wurapa, R. (2012). Radial-ulnar synostosis. Retrieved from http://emedicine.medscape.com/article/1240467

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA
  2. 2.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA

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