Pycnodysostosis - Contents | Cases | Comments | Bibliography

Pycnodysostosis

Bibliography

To check if you are a sufferer - http://www.ibionet.com/rarediseases/Pyknodysostosis.html

To find out the single inborn error of metabolism that results in pyknodysostosis http://www.csmc.edu/genetics/skeldys/nomen.4.html

Hungarian radiology site http://socrad.dote.hu/tovabbk/gyerek/WEISEN.html

OMIM Site http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?265800 (Best overall description on the net)

1. Lazner F, Gowen M, Pavasovic D, Kola I. 

   Osteopetrosis and osteoporosis: two sides of the same coin.
   Hum Mol Genet. 1999;8(10 REVIEW ISSUE):1839-46.

    

2. Alibhai ZA, Matee MI, Chindia ML, Moshy J.

   Presentation and management of chronic osteomyelitis in an African patient with pycnodysostosis.
   Oral Dis. 1999 Jan;5(1):87-9.

    

3. Iwu CO.

   Bilateral osteomyelitis of the mandible in pycnodysostosis. A case report.
   Int J Oral Maxillofac Surg. 1991 Apr;20(2):71-2.

    

4. O'Connell AC, Brennan MT, Francomano CA.

   Pycnodysostosis: orofacial manifestations in two pediatric patients.
   Pediatr Dent. 1998 May-Jun;20(3):204-7. No abstract available.

    

5. Darcan S, Akisu M, Taneli B, Kendir G.

   A case of pycnodysostosis with growth hormone deficiency.
   Clin Genet. 1996 Nov;50(5):422-5.

    

6. Soliman AT, Rajab A, AlSalmi I, Darwish A, Asfour M.

   Defective growth hormone secretion in children with pycnodysostosis and improved linear growth after growth hormone treatment.
   Arch Dis Child. 1996 Sep;75(3):242-4.

    

7. Beguiristain JL, Arriola FJ, Leyes M.

   Lumbar spine anomalies in a pycnodysostosis case.
   Eur Spine J. 1995;4(5):320-1. Review.

    

8. Edelson JG, Obad S, Geiger R, On A, Artul HJ.

   Pycnodysostosis. Orthopedic aspects with a description of 14 new cases.
   Clin Orthop. 1992 Jul;(280):263-76.

    

9. Greenspan A.

   Sclerosing bone dysplasias--a target-site approach.
   Skeletal Radiol. 1991;20(8):561-83. Review.

    

10. Floman Y, Gomori JM, Fast A.

    Isthmic spondylolisthesis in pycnodysostosis.
    J Spinal Disord. 1989 Dec;2(4):268-71.

     

11. Mills KL, Johnston AW.

    Pycnodysostosis. (This paper reports the case presented here, 12 years earlier)
    J Med Genet. 1988 Aug;25(8):550-3.

     

12. Kumar A.

    Pycnodysostosis. Case report.
    Int Orthop. 1988;12(3):261-3.

     

13. Lyritis G, Rapidis A, Dimitracopoulos B.

    Orthopaedic problems in patients with pycnodysostosis.
    Prog Clin Biol Res. 1982;104:199-204.

     

14. Beighton P, Hamersma H.

    The orthopaedic implications of the sclerosing bone dysplasias.
    S Afr Med J. 1980 Oct 11;58(15):600-4.
    

Is this Toulouse Lautrec's Disease? http://www.nhgri.nih.gov/Policy_and_public_affairs/Communications/In_press/toulouse-lautrec.html

PYCNODYSOSTOSIS: All You Wanted to Know but were afraid to ask about Pycnodysostosis, a Lysosomal Disease http://bst2.bioscience.drexel.edu/biology/molcellbiol/Homepage/index.html

Novel Mutations of the Cathepsin K Gene in Patients with Pycnodysostosis (abstract) The Journal of Clinical Endocrinology & Metabolism, January 2000, p. 425-431

PYCNODYSOSTOSIS Virtual Dental Center. MAROTEAUX-LAMY'S SYNDROME  (review from dental point of view with good references)

The International Skeletal Dysplasia Registry Cedars-Sinai Medical Center, Los Angeles, California. Offers an archive for clinical material, samples Xrays, clinical photographs etc

Support Group page for skeletal dysplasias. None specifically for Pycnodysostosis; but many for short stature.

Pycnodysostosis (Orphanet)

Abstract Number SBDD-4 RATIONAL APPROACHES TO INHIBITION OF HUMAN OSTEOCLAST CATHEPSIN K AND TREATMENT OF OSTEOPOROSIS. (abstract)