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Case Reports in Genetics
Volume 2011, Article ID 428714, 6 pages
http://dx.doi.org/10.1155/2011/428714
Case Report

Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

Department of Human Genetics, Medical Research Institute, Alexandria University, 165 El-Horreya Avenue, El-Hadra, Alexandria 21561, Egypt

Received 16 August 2011; Accepted 12 September 2011

Academic Editors: D. J. Bunyan and A. M. Slavotinek

Copyright © 2011 E. M. Abdalla and H. Morsy. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. C. S. Bartsocas and C. V. Papas, “Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form,” Journal of Medical Genetics, vol. 9, no. 2, pp. 222–226, 1972. View at Google Scholar · View at Scopus
  2. A. A. Massoud, A. N. Ammaari, A. S. S. Khan, B. V. Katraman, and A. S. Teebi, “Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization,” American Journal of Medical Genetics, vol. 79, no. 1, pp. 16–21, 1998. View at Google Scholar · View at Scopus
  3. E. Reich, M. Wishnick, J. McCarthy, and N. Tzimas, “Long term follow up in an 8-year old with the “lethal” popliteal pterygium syndrome (Bartsocas-Papas syndrome),” American Journal of Medical Genetics, vol. 17, supplement, pp. 841–847, 1984. View at Google Scholar
  4. S. M. Dolan, A. L. Shanske, R. W. Marion, and S. J. Gross, “First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature,” Prenatal Diagnosis, vol. 23, no. 2, pp. 138–142, 2003. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  5. Orphanet Report Series, “Prevalence of rare diseases: bibliographic data,” Rare Diseases Collection, Number 1: Listed in alphabetical order of diseases, May 2011.
  6. H. E. Veenstra-Knol, A. Kleibeuker, A. Timmer, L. P. Ten Kate, and A. J. Van Essen, “Unreported manifestations in two dutch families with Bartsocas-Papas syndrome,” American Journal of Medical Genetics, vol. 123, no. 3, pp. 243–248, 2003. View at Google Scholar · View at Scopus
  7. R. C. M. Hennekam, J. Huber, and D. Variend, “Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome?” American Journal of Medical Genetics, vol. 53, no. 2, pp. 102–107, 1994. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  8. J. G. Hall, S. D. Reed, K. N. Rosenbaum, J. Gershanik, H. Chen, and K. M. Wilson, “Limb pterygium syndromes: a review and report of eleven patients,” American Journal of Medical Genetics, vol. 12, no. 4, pp. 377–409, 1982. View at Google Scholar · View at Scopus
  9. G. Ceylaner, M. A. Güven, S. Ceylaner, M. Uzel, and K. Müftüoǧlu, “Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia,” Prenatal Diagnosis, vol. 27, no. 6, pp. 563–565, 2007. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  10. Y. Aslan, E. Erduran, and N. Kutlu, “Autosomal recessive multiple pterygium syndrome: a new variant?” American Journal of Medical Genetics, vol. 93, no. 3, pp. 194–197, 2000. View at Google Scholar · View at Scopus
  11. OMIM Online Mendelian Inheritance in Man, http://www.omim.org/.
  12. A. S. Teebi, Y. Aslan, E. Erduran, and N. Kutlu, “Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome,” American Journal of Medical Genetics, vol. 101, no. 1, pp. 78–79, 2001. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  13. J. P. Fryns and P. Moerman, “Popliteal pterygium and multiple pterygium syndromes,” American Journal of Medical Genetics, vol. 100, no. 1, p. 81, 2001. View at Google Scholar · View at Scopus
  14. U. G. Froster-Iskenius, “Popliteal pterygium syndrome,” Journal of Medical Genetics, vol. 27, no. 5, pp. 320–326, 1990. View at Google Scholar · View at Scopus
  15. S. Y. Parashar, P. J. Anderson, N. McLean, M. Djohansjah, and D. J. David, “Spectrum of features in pterygium syndrome,” Asian Journal of Surgery, vol. 29, no. 2, pp. 104–108, 2006. View at Google Scholar · View at Scopus
  16. J. Nelson, N. C. Nevin, and E. J. Hanna, “Polydactyly in a carrier of the gene for the Meckel syndrome,” American Journal of Medical Genetics, vol. 53, no. 3, pp. 207–209, 1994. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  17. R. Gulati, S. R. Phadke, and S. S. Agarwal, “Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?” Journal of Medical Genetics, vol. 34, no. 11, pp. 937–938, 1997. View at Google Scholar · View at Scopus
  18. P. Prontera, A. Sensi, L. Merlo, G. Garani, G. Cocchi, and E. Calzolari, “Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form?” American Journal of Medical Genetics, Part A, vol. 140, no. 20, pp. 2227–2230, 2006. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus