Table of Contents Author Guidelines Submit a Manuscript
International Journal of Endocrinology
Volume 2009, Article ID 931057, 3 pages
http://dx.doi.org/10.1155/2009/931057
Case Report

Ectopic Calcification as Discernible Manifestation in Neonates with Pseudohypoparathyroidism Type 1a

1Department of Endocrinology & Metabolism, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama 232-8555, Japan
2Department of Pediatrics, Matsuyama Red Cross Hospital, Matsuyama 790-8524, Japan
3Department of Pediatrics, Yokohama Municipal Citizen's Hospital, Yokohama 240-8555, Japan
4Department of Pediatrics, Medical School Keio University, Tokyo 160-8582, Japan

Received 23 October 2008; Accepted 9 June 2009

Academic Editor: Maria I. New

Copyright © 2009 Masanori Adachi 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. M. Bastepe and H. Jüppner, “Pseudohypoparathyroidism: new insights into an old disease,” Endocrinology and Metabolism Clinics of North America, vol. 29, no. 3, pp. 569–589, 2000. View at Google Scholar
  2. L. S. Weinstein, P. V. Gejman, E. Friedman et al., “Mutations of the Gsα-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis,” Proceedings of the National Academy of Sciences of the United States of America, vol. 87, no. 21, pp. 8287–8290, 1990. View at Google Scholar
  3. F. Albright, C. H. Burnett, P. H. Smith, and W. Parson, “Pseudohypoparathyroidism—an example of ‘Seabright-Bantam Syndrome’,” Endocrinology, vol. 30, pp. 922–932, 1942. View at Google Scholar
  4. S. J. Davies and H. E. Hughes, “Imprinting in Albright's hereditary osteodystrophy,” Journal of Medical Genetics, vol. 30, no. 2, pp. 101–103, 1993. View at Google Scholar
  5. I. M. Gelfand, E. A. Eugster, and L. A. DiMeglio, “Presentation and clinical progression of pseudohypoparathyroidism with multi-hormone resistance and Albright hereditary osteodystrophy: a case series,” Journal of Pediatrics, vol. 149, no. 6, pp. 877–880, 2006. View at Publisher · View at Google Scholar
  6. M. Inokuchi, T. Hasegawa, M. Anzo, and N. Matsuo, “Standardized centile curves of body mass index for Japanese children and adolescents based on the 1978–1981 national survey data,” Annals of Human Biology, vol. 33, no. 4, pp. 444–453, 2006. View at Publisher · View at Google Scholar
  7. N. S. Adegbite, M. Xu, F. S. Kaplan, E. M. Shore, and R. J. Pignolo, “Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification,” American Journal of Medical Genetics, Part A, vol. 146, no. 14, pp. 1788–1796, 2008. View at Publisher · View at Google Scholar
  8. S. Izraeli, A. Metzker, G. Horev, D. Karmi, P. Merlob, and Z. Farfel, “Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis,” American Journal of Medical Genetics, vol. 43, no. 4, pp. 764–767, 1992. View at Publisher · View at Google Scholar
  9. F. G. Riepe, W. Ahrens, N. Krone et al., “Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene,” European Journal of Endocrinology, vol. 152, no. 4, pp. 515–519, 2005. View at Publisher · View at Google Scholar
  10. R. B. Cohen, G. V. Hahn, J. A. Tabas et al., “The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients,” Journal of Bone and Joint Surgery. American, vol. 75, no. 2, pp. 215–219, 1993. View at Google Scholar