International Journal of Infertility & Fetal Medicine

Register      Login

VOLUME 2 , ISSUE 3 ( September-December, 2011 ) > List of Articles

CASE REPORT

Phocomelia: An Extremely Rare Congenital Disorder involving the Limbs (Dysmelia)

Sunita Pawar Shekokar, Tasneem Shah, C Chandana

Citation Information : Shekokar SP, Shah T, Chandana C. Phocomelia: An Extremely Rare Congenital Disorder involving the Limbs (Dysmelia). Int J Infertil Fetal Med 2011; 2 (3):118-120.

DOI: 10.5005/jp-journals-10016-1031

License: CC BY-NC 4.0

Published Online: 01-12-2014

Copyright Statement:  Copyright © 2011; The Author(s).


Abstract

Phocomelia—phoco(seal), melia(limbs)—is a rare congenital deformity in which hands or feet are attached close to the trunk, the limbs being grossly underdeveloped or absent. The babies are born with limbs that look like flippers on a seal. The two main etiological factors of phocomelia are genetic inheritance and use of the drug thalidomide. Here, we present a case of phocomelia in second gravida without exposure to thalidomide.


PDF Share
  1. A reevaluation of X-irradiation-induced phocomelia and proximodistal limb patterning. Nature 460, 16 July, 2009 400-04.
  2. wikipedia.org/wiki/Phocomelia (accessed July 2011).
  3. Limb/Pelvis hypoplasia. Aplasia with skill defect (Schinzel Phocomelia): Distinctive features and prenatat detection. Am J Med Genet 1 November 2001;103(4):295-301.
  4. National Organization for Rare Disorders. 11 October 2007 http://www.rarediseases.org
  5. The first seal baby. The real-story of thalidomide, 3/10/2011, http://healthworldnet.com/best-of-thebest/.
  6. Thalidomide embryopathy: A model for the study of congenital incomitant horizontal strabismus. Transaction of the American Ophthalmological Society 1991;81: 623-74.
  7. Teratology society—birth defects research. 08 December 2007 http://www.teratology.org/jfs/Pharmaceutical.html
  8. Thalidomide. The oxford companion to the body. Oxford University Press, 2001, 2003. Answers.com 06 Dec 2007. http://www.answers.com/topic/thalidomide.
  9. Time magzine US, 10 August 1962. Retrieved 15 April 2011.
  10. Identification of a primary target of thalidomide teratogenicity. Science March 2010;327(5971): 1345-50.
  11. Fifteen-year hunt uncovers gene behind pseudothalidomide syndrome. 11 April 2005. John Hopkins Medicine. 10 December 2007, http://www.hopkinsmedicine.org/Press_releases/2005/04_11_05.html.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.