Talk:Osteopetrosis
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editThe artist Laurel Burch is reported to have died of this disease. (See Marin Independent Journal, 9/17/07, [1]) I'm sure I am not going to be the only person to come looking for information about this disease, which I'd never even heard of. I don't feel competent to work on this article, but it would be nice if it could be expanded. Mellificent 18:27, 21 September 2007 (UTC)
Origins of name
editWhere does the "marble" name come from? Bones which are denser and often thicker are not necessarily marble-like. When was the disease identified?
I am not sure that the description is correct. Bones may become denser, but they often become enlarged and thickened. And I am not sure that they can be said to be harder. If they become more brittle, can they be harder?101.98.175.68 (talk) 20:53, 18 April 2014 (UTC)
Review
editJCEM doi:10.1210/jc.2017-01127 JFW | T@lk 22:06, 17 September 2017 (UTC)
Osteopetrosis
editOsteopetrosis is caused by osteoclasts not breaking down and reabsorbing long bones and other sites of injury. My daughter had the malignant infantile type and renal tubular acidosis WITHOUT CAII deficiency; she never had a broken bone in her 3.5 years of life on this earth. She didn’t qualify for a BMT because her organs would have failed her in the process. She also had Fanconi Syndrome not to be confused with Fanconi Anemia. This caused her to have issues with her bones as well as the Osteopetrosis but we could never genetically link her. Her biopsies are the Armed Forces Lab for genetic study and her case was published by Dr. Michael Whyte with WashU in St. Louis and his study with the Shriner’s hospital in STL. You are free too check his credentials on PubMed as he has been part of several studies and the abstracts are available on PubMed. 2604:2D80:DC8C:7000:F5CA:48B7:9F22:9F14 (talk) 03:40, 21 November 2021 (UTC)