There are a few ways to diagnose Van Buchem's Syndrome

X-Ray

An X-ray is a non-invasive procedure that allows physicians to look at your bones. They may need this procedure to check for fractures and or other bone issues. It works by exposing a small portion of the body to ionization radiation that produces an image of the bone (as seen below). This procedure can be used to diagnose Van Buchem's Syndrome because x-ray images of the bones will show up unusually opaque and bright on the image, as you can see below^[1][2].

(Left) This is an X-Ray of a normal hip bone.

(Right) This is an X-Ray of a patient with Van Buchem's Syndrome

Obviously, the image on the left is much darker and

much less opaque than the image on the right.

The image below is a photo of an X-ray machine.

http://www.allwords.com/details-X-ray-3468009.html

Bone Mineral Density Scan

     A bone mineral density scan is a sort of improved X-ray machine. It uses dual x-ray absorptiometry or DEXA, as well as bone densitometry. This scan is normally used for measuring bone density in older women as a way to catch osteoporosis in its early stages (it is now recommended that women over the age of 65 recieve a scan to help prevent osteoporosis). In diagnosis for Van Buchem's syndrome, it is used in the opposite fashion to check for unusual bone gain instead of loss. Below is a photo of a DEXA scanning machine and also a photo of a normal DEXA scan.

https://www.clevelandclinic.org/arthritis/osteo/densitometry.htm

http://www.brooksvilleregional.net/Services/Diagnostic-Imaging-and-Cardiovascular-Services/Bone-Density/Default.aspx

Van Buchem's Syndrome (Home Page)

Page Authors: Emmie Ryan and Julie Swihart