• Harold Chen
Living reference work entry


Dysmelia is a widely accepted term used to define a group of malformations in which there is hypoplasia, and partial or total aplasia of the tubular bones of the extremities, ranging from isolated peripheral hypoplasia to complete loss of the extremity. The condition is commonly known as limb deficiency or limb reduction defect. The prevalence rate for all types of limb deficiency is 0.69 per 1,000 (McGuirk et al. 2001).


Congenital Heart Disease Fanconi Anemia Choanal Atresia Limb Defect Radioulnar Synostosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Aitken, G. T. (1964). Management of severe bilateral upper limb deficiencies. Clinical Orthopaedics, 37, 53–56.CrossRefGoogle Scholar
  2. Armstrong, A. P., & Page, R. E. (1997). Intrauterine vascular deficiency of the upper limb. Journal of Hand Surgery (British and European Volume), 22, 607–611.CrossRefGoogle Scholar
  3. Bauer, A. S., Bednar, M. S., & James, M. A. (2013). Disruption of the radial/ulnar axis: congenital longitudinal deficiencies. Hand Surgery, 38A, 2293–2302.CrossRefGoogle Scholar
  4. Bedoya, M. A., Chauvin, N. A., Jaramillo, D., et al. (2015). Common patterns of congenital lower extremity shortening: Diagnosis, classification, and follow-up. RadioGraphics, 35, 1191–1207.CrossRefPubMedGoogle Scholar
  5. Boyd, P. A., Keeling, J. W., Selinger, M., et al. (1990). Limb reduction and chorion villus sampling. Prenatal Diagnosis, 10, 437–441.CrossRefPubMedGoogle Scholar
  6. Brent, R. L., & Holmes, L. B. (1988). Clinical and basic science lessons from the thalidomide tragedy: What have we learned about the causes of limb defects? Teratology, 38, 241–251.CrossRefPubMedGoogle Scholar
  7. Brumback, B. A., Cook, R. J., & Ryan, L. M. (2000). A meta-analysis of case–control and cohort studies with interval-censored exposure data: Application to chorionic villus sampling. Biostatistics, 1, 203–217.CrossRefPubMedGoogle Scholar
  8. Christianson, A. L., & Nelson, M. M. (1984). Four cases of trisomy 18 syndrome with limb reduction malformations. Journal of Medical Genetics, 21, 293–297.CrossRefPubMedPubMedCentralGoogle Scholar
  9. Cobben, J. M., Hiemstra, S., & Robinson, P. H. (1994). Genetic counseling in limb reduction defects. Genetic Counseling, 5, 243–248.PubMedGoogle Scholar
  10. Curran, B., & Hambrey, R. (1991). The prosthetic treatment of upper limb deficiency. Prosthetics and Orthotics International, 15, 82–87.PubMedGoogle Scholar
  11. Frantz, C. H., & O’Rahilly, R. (1961). Congenital skeletal limb deficiencies. The Journal of Bone and Joint Surgery, 43A, 1202–1224.Google Scholar
  12. Golden, C. M., Ryan, L. M., & Holmes, L. B. (2003). Chorionic villus sampling: A distinctive teratogenic effect on fingers? Birth Defects Research, Part A: Clinical and Molecular Teratology, 67, 557–562.CrossRefGoogle Scholar
  13. Graham, J. M., Jr. (1986). Causes of limb reduction defects: The contribution of fetal constraint and/or vascular disruption. Clinics in Perinatology, 13, 575–591.PubMedGoogle Scholar
  14. Graham, J. M., Miller, M. E., Stephan, M. J., et al. (1980). Limb reduction anomalies and early in utero limb compression. Journal of Pediatrics, 96, 1052–1056.CrossRefPubMedGoogle Scholar
  15. Gurrieri, F., & Everman, D. B. (2013). Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update. American Journal of Medical Genetics Part A, 161A, 2860–2872.CrossRefPubMedGoogle Scholar
  16. Hall, B. D. (1992). Vascular abnormalities at the site of limb deficiency. American Journal of Medical Genetics, 43, 619–620.CrossRefPubMedGoogle Scholar
  17. Henkel, L., & Willert, H.-G. (1969). Dysmelia. A classification and a pattern of malformation in a group of congenital defects of the limbs. The Journal of Bone and Joint Surgery, 51B, 399–414.Google Scholar
  18. Hirons, R. R., Williams, K. B., Amor, R. F., et al. (1991). The prosthetic treatment of lower limb deficiency. Prosthetics and Orthotics International, 15, 112–116.PubMedGoogle Scholar
  19. Hoyme, H. E., Jones, K. L., Van Allen, M. I., et al. (1982). Vascular pathogenesis of transverse limb reduction defects. Journal of Pediatrics, 101, 839–843.CrossRefPubMedGoogle Scholar
  20. Klopocki, E., Lohan, S., Doelken, S. C., et al. (2012). Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics, 49, 119–125.CrossRefPubMedGoogle Scholar
  21. Lam, Y. H., Tang, M. H. Y., Sin, S. Y., et al. (1997). Limb reduction defects in fetuses with homozygous α-thalassaemia-1. Prenatal Diagnosis, 17, 1143–1146.CrossRefPubMedGoogle Scholar
  22. Lamb, D. W., Simpson, D. C., & Pirie, R. B. (1970). The management of lower limb phocomelia. The Journal of Bone and Joint Surgery, 52, 688–691.PubMedGoogle Scholar
  23. Le, J. T., & Scott-Wyard, P. R. (2015). Pediatric limb differences and amputations. Physical Medicine and Rehabilitation Clinics of North America, 26, 95–108.Google Scholar
  24. McGuirk, C. K., Westgate, M.-N., & Holmes, L. B. (2001). Limb deficiencies in newborn infants. Pediatrics, 108, 64.CrossRefGoogle Scholar
  25. Mongeau, M., Gingras, G., Sherman, E. D., et al. (1966). Medical and psychosocial aspects of the habilitation of thalidomide children. Canadian Medical Association Journal, 95, 390–395.PubMedPubMedCentralGoogle Scholar
  26. Nair, S. B., Mukundan, G., Thomas, R., et al. (2011). Ectrodactyly and prenatal diagnosis. The Journal of Obstetrics and Gynecology of India, 61, 683–685.CrossRefPubMedGoogle Scholar
  27. Newman, C. G. H. (1986). The thalidomide syndrome: Risks of exposure and spectrum of malformations. Clinics in Perinatology, 13, 555–573.PubMedGoogle Scholar
  28. Piper, S. L., Dicke, J. M., Wall, L. B., et al. (2015). Prenatal detection of upper limb differences with obstetric ultrasound. Journal of Hand Surgery (American ed.), 40, 1310–1317.CrossRefGoogle Scholar
  29. Radomsky, C. L., & Levine, N. (2001). Thalidomide. Dermatologia Clinica, 19, 87–103.CrossRefGoogle Scholar
  30. Rijhsinghani, A., Yankowitz, J., Mazursky, J., et al. (1995). Prenatal ultrasound diagnosis of amelia. Prenatal Diagnosis, 15, 655–659.CrossRefPubMedGoogle Scholar
  31. Tseng, S., Pak, G., Washenik, K., et al. (1996). Rediscovering thalidomide: A review of its mechanism of action, side effects, and potential uses. Journal of the American Academy of Dermatology, 35, 969–979.CrossRefPubMedGoogle Scholar
  32. Tytherleigh-Strong, G., & Hooper, G. (2003). The classification of phocomelia. Journal of Hand Surgery (British), 28, 215–217.CrossRefGoogle Scholar
  33. Vergult, S., Hoogeboom, A. J. M., Bijlsma, E. K., et al. (2013). Complex genetics of radial ray deficiencies: Screening of a cohort of 54 patients. Genetics in Medicine, 15, 195–202.CrossRefPubMedGoogle Scholar
  34. Wilcox, W. R., Coulter, C. P., & Schmitz, M. L. (2015). Congenital limb deficiency disorders. Clinical Perinatology, 42, 281–300.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

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

Personalised recommendations