J Child Orthop 2013 Dec 21;7(6):455-64. Epub 2013 Sep 21.
Department of Orthopaedic Surgery, Women's and Children's Hospital, 72 King William Rd., North Adelaide, SA 5006 Australia ; Centre for Orthopaedic and Trauma Research, University of Adelaide, Adelaide, Australia.
Introduction: Metachondromatosis is a rare genetic disease of osteochondroma and enchondroma formation, caused by loss of function of the PTPN11 gene. It is distinct from other similar conditions such as multiple osteochondromas and hereditary multiple exostoses by the distribution and orientation of lesions, and pattern of inheritance. Lesions typically occur in hands, feet, femora, tibiae and the pelvis. Read More