Extreme Enchondromatosis: A Report of Two Cases and Review of the Literature

Ghatan, Andrew; Scharschmidt, Thomas; Conrad, Ernest
October 2010
Journal of Bone & Joint Surgery, American Volume;10/6/2010, Vol. 92-A Issue 13, p2336
Academic Journal
The article discusses extreme enchondromatosis characterized by the development of massive cartilage tumors that affect the diaphysis or metaphysis of long bones. It mentions a clinical case of a girl having skeletal abnormalities and respiratory distress and diagnosis of enchondromatosis with spinal involvement at six months of age. It also states that the pathogenesis of enchondromatosis is suggested to be genetic-based although a mendelian inheritance pattern has not been recognized.


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