Article
EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.
Skeletal radiology - 1 May 2012
Vining Neil C, Done Stephen, Glass Ian A, Parnell Shawn E, Sternen Darci L, Leppig Kathleen A, Mosca Vincent S, Goldberg Michael J
Abstract excerpt
Metachondromatosis (MC) and hereditary multiple osteochondromas (HMO) are thought to be distinct disorders, each with characteristic x-ray and clinical features. Radiographic differences are the current mainstay of differential diagnosis. Both disorders are autosomal dominant, but the majority of patients with HMO have mutations in EXT-1 or EXT 2 genes. The genetic defect in MC is unknown, although recent studies...
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