Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Pediatrics
Volume 2013, Article ID 218124, 4 pages
http://dx.doi.org/10.1155/2013/218124
Case Report

Anatomical Asplenia in Cat Eye Syndrome: An Expansion of the Disease Spectrum

1Department of Pediatrics and Adolescent Medicine, Einstein Medical Center, Philadelphia, PA 19141, USA
2Clinical Genetics, Einstein Medical Center, Philadelphia, PA 19141, USA

Received 21 February 2013; Accepted 14 March 2013

Academic Editors: P. Pavone and M. Raes

Copyright © 2013 DeepakBabu Chellapandian and Adele Schneider. 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. M. J. W. Berends, G. Tan-Sindhunata, B. Leegte, and A. J. Van Essen, “Phenotypic variability of cat-eye syndrome,” Genetic Counseling, vol. 12, no. 1, pp. 23–34, 2001. View at Google Scholar · View at Scopus
  2. P. P. R. Rosias, J. M. J. Sijstermans, P. M. V. M. Theunissen et al., “Phenotypic variability of the cat eye syndrome. Case report and review of the literature,” Genetic Counseling, vol. 12, no. 3, pp. 273–282, 2001. View at Google Scholar · View at Scopus
  3. T. N. Win, S. Roberts, and D. Laws, “Duane syndrome associated with the Cat Eye syndrome: a case report,” Eye, vol. 21, no. 2, pp. 289–291, 2007. View at Publisher · View at Google Scholar · View at Scopus
  4. G. Schachenmann, W. Schmid, M. Fraccaro et al., “Chromosomes in Coloboma and Anal Atresia,” The Lancet, vol. 286, no. 7406, p. 290, 1965. View at Google Scholar · View at Scopus
  5. B. I. Ivemark, “Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases,” Acta paediatrica. Supplementum, vol. 44, supplement 104, pp. 7–110, 1955. View at Google Scholar · View at Scopus
  6. J. E. Keane, V Lock, and D. C. Fyler, Nadas’ Pediatric Cardiology, Elsevier, 2nd edition, 2006.
  7. S. van Praagh, J. Kreutzer, L. Alday, and R. van Praagh, “Systemic and pulmonary venous connections in visceral heterotaxy with emphasis on the diagnosis of the atrial situs: a study of 109 postmortem cases,” in Developmental Cardiology Morphogenesis and Function Futura, E. B. Clark and A. Takas, Eds., pp. 671–727, New York, NY, USA, 1990. View at Google Scholar
  8. N. Mahlaoui, V. Minard-Colin, C. Picard et al., “Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases,” Journal of Pediatrics, vol. 158, no. 1, pp. 142–148, 2011. View at Publisher · View at Google Scholar · View at Scopus
  9. B. Gilbert, C. Menetrey, V. Belin, P. Brosset, L. De Lumley, and A. Fisher, “Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others,” European Journal of Pediatrics, vol. 161, no. 7, pp. 368–372, 2002. View at Publisher · View at Google Scholar · View at Scopus
  10. The Centers for Disease Control and Prevention (CDC), 2010, http://www.cdc.gov/vaccines/.
  11. G. E. Schutze, E. O. Mason, W. J. Barson et al., “Invasive pneumococcal infections in children with asplenia,” Pediatric Infectious Disease Journal, vol. 21, no. 4, pp. 278–282, 2002. View at Publisher · View at Google Scholar · View at Scopus