Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Genetics
Volume 2019, Article ID 6845836, 4 pages
https://doi.org/10.1155/2019/6845836
Case Report

Pallister-Hall Syndrome Presenting in Adolescence

1Rutgers-Robert Wood Johnson Medical School, 675 Hoes Lane, Piscataway Township, NJ 08854, USA
2Division of Pediatric Hematology and Oncology, Rutgers-Robert Wood Johnson Medical School, Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08901, USA
3Department of Neurosurgery, Rutgers-Robert Wood Johnson Medical School, Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08901, USA
4Division of Pediatric Endocrinology, Rutgers-Robert Wood Johnson Medical School, 89 French Street 2nd Floor, New Brunswick, NJ 08901, USA

Correspondence should be addressed to Ian Marshall; ude.sregtur.smjwr@aiahsram

Received 7 November 2018; Accepted 20 January 2019; Published 18 March 2019

Academic Editor: Mohnish Suri

Copyright © 2019 Aria Mahtabfar et al. 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. J. G. Hall, P. D. Pallister, S. K. Clarren et al., “Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - A new syndrome? Part I: Clinical, causal, and pathogenetic considerations,” American Journal of Medical Genetics, vol. 7, no. 1, pp. 47–74, 1980. View at Publisher · View at Google Scholar · View at Scopus
  2. S. K. Clarren, E. C. Alvord Jr., and J. G. Hall, “Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - A new syndrome? Part II: Neuropathological considerations,” American Journal of Medical Genetics, vol. 7, no. 1, pp. 75–83, 1980. View at Publisher · View at Google Scholar · View at Scopus
  3. L. G. Biesecker, M. Abbott, J. Allen et al., “Report from the workshop on Pallister-Hall syndrome and related phenotypes,” American Journal of Medical Genetics, vol. 65, no. 1, pp. 76–81, 1996. View at Publisher · View at Google Scholar · View at Scopus
  4. L. G. Biesecker, “Pallister-Hall Syndrome,” in GeneReviews®, M. P. Adam, H. H. Ardinger, and R. A. Pagon, Eds., Seattle (WA): University of Washington, Seattle, Wash, USA, 1993-2018. View at Google Scholar
  5. S. Kang, J. M. Graham Jr., A. H. Olney, and L. G. Biesecker, “GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome,” Nature Genetics, vol. 15, no. 3, pp. 266–268, 1997. View at Publisher · View at Google Scholar · View at Scopus
  6. A. Vortkamp, M. Gessler, and K.-H. Grzeschik, “GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families,” Nature, vol. 352, no. 6335, pp. 539-540, 1991. View at Publisher · View at Google Scholar · View at Scopus
  7. U. Radhakrishna, D. Bornholdt, H. S. Scott et al., “The phenotypic spectrum of gli3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations,” American Journal of Human Genetics, vol. 65, no. 3, pp. 645–655, 1999. View at Publisher · View at Google Scholar
  8. U. Radhakrishna, A. Wild, K. H. Grzeschik et al., “Mutation in GLI3 in postaxial polydactyly type A,” Nature Genetics, vol. 17, no. 3, pp. 269–271, 1997. View at Publisher · View at Google Scholar
  9. E. Elson, R. Perveen, D. Donnai, S. Wall, and G. C. M. Black, “De novo GLI3 mutation in acrocallosal syndrome: Broadening the phenotypic spectrum of GLI3 defects and overlap with murine models,” Journal of Medical Genetics, vol. 39, no. 11, pp. 804–806, 2002. View at Publisher · View at Google Scholar · View at Scopus
  10. V. S. Harrison, O. Oatman, and J. F. Kerrigan, “Hypothalamic hamartoma with epilepsy: Review of endocrine comorbidity,” Epilepsia, vol. 58, Suppl 2, pp. 50–59, 2017. View at Publisher · View at Google Scholar · View at Scopus
  11. W. Maixner, “Hypothalamic hamartomas - Clinical, neuropathological and surgical aspects,” Child's Nervous System, vol. 22, no. 8, pp. 867–873, 2006. View at Publisher · View at Google Scholar · View at Scopus
  12. E. A. Boudreau, K. Liow, C. M. Frattali et al., “Hypothalamic hamartomas and seizures: Distinct natural history of isolated and pallister-hall syndrome cases,” Epilepsia, vol. 46, no. 1, pp. 42–47, 2005. View at Publisher · View at Google Scholar · View at Scopus
  13. K. L. Jones and M. P. Adam, “Evaluation and Diagnosis of the Dysmorphic Infant,” Clinics in Perinatology, vol. 42, no. 2, pp. 243–261, 2015. View at Publisher · View at Google Scholar · View at Scopus
  14. S. Malik, “Polydactyly: Phenotypes, genetics and classification,” Clinical Genetics, vol. 85, no. 3, pp. 203–212, 2014. View at Publisher · View at Google Scholar · View at Scopus
  15. D. Nguyen, S. Singh, M. Zaatreh et al., “Hypothalamic hamartomas: seven cases and review of the literature,” Epilepsy & Behavior, vol. 4, no. 3, pp. 246–258, 2003. View at Publisher · View at Google Scholar · View at Scopus
  16. A. S. Harvey, J. L. Freeman, S. F. Berkovic, and J. V. Rosenfeld, “Transcallosal resection of hypothalamic hamartomas in patients with intractable epilepsy,” Epileptic Disorders: International Epilepsy Journal with Videotape, vol. 5, no. 4, pp. 257–265, 2003. View at Google Scholar · View at Scopus