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Effects 3 Bone 11

Page history last edited by Emily Ryan 12 years, 11 months ago


Van Buchem's syndrome is a skeletal disorder.  Almost all of the effects are bone-structure defects.

The most common symptoms of Van Buchem's syndrome are:

  • Thickening of skull bone

  • Thickening of collar bone

  • Thickening of jaw bone

  • Thickening of rib bones

  • Thickening of main shaft of long bones

  • Facial nerve paralysis (due to nerve entrapment)

  • Inability to sense (feeling) due to nerve entrapment

  • Wide chin

  • Papillary edema  [1]

  • Increased bone strength

  • Increased bone radius

  • Increased bone mineral density[2]


This image shows a patient who was diagnosed with Van Buchem's sydrome. A thicker jaw bone and an abnormally wide chin are distinctly noticeable in the photo.





The above image shows a Van Buchem patient's skull on the right in comparison with three unafflicted, normal human skulls. The weight of the skull on the right is almost equal to the weight of four normal skulls [3].


To see why the bones become so unusually heavy please see the Bone Growth page.



Below are X-ray images of normal patients and also X-rays of patients with Van Buchem's Syndrome 





(Left) This photo shows the unusually dense ulna and femur of a patient with Van Buchem's.

(Right) This is a X-ray of a normal patient.

















  [4] (Left)Patient with normal X-ray   



(Right) X-ray of a patient with VB

An unusually dense femur and pelvis can be seen



Van Buchem's Syndrome (home page) 


Page Authors: Emmie Ryan and Julie Swihart


  1. "Van Buchem syndrome." Wrong Diagnosis. 2006. Web. 29 Oct 2009. .
  2. K, Veskovic, Hellan M, Nyght C, Balemans W , and Tan J. "Patients with Van Buchem disease, an osteosclerotic genetic disease, have elevated bone formation markers, higher bone density, and greater derived polar moment of inertia than normal.." PubMed.gov. 2003 Dec. PubMed.gov, Web. 1 Nov 2009. .
  3. Janssens, Katrien, and Wim Van Hul. "Molecular genetics of too much bone." Human Molecular Genetics. 11.20 (2002): 2. Print. (Image included)
  4. Balemans, Wendy, Jean-Pierre Devogelaer, Erna Cleiren, Elke Piters, and Emanuelle Caussin. "Novel LRP5 Missense Mutation in a Patient With a High Bone Mass." JOURNAL OF BONE AND MINERAL RESEARCH. 22. (2007): 2. Print.

Comments (1)

Sarah Lorenz said

at 5:32 pm on Nov 1, 2009

That picture of the skulls is almost unbelievable! It's really shocking to actually be able to see the difference between the density of the bones. Try swimming with bones like the ones on the right.

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