A finding of high BMD on routine DXA scanning is not infrequent and most commonly
reflects degenerative disease. However, BMD increases may also arise secondary to a …

Although knowledge of basic genetics in the field of sclerosing bone dysplasias is
progressing, the radiologist still plays a pivotal role in the diagnosis of this relatively poorly …

The phenotypic trait of high bone mass (HBM) is an excellent example of the nexus between
common and rare disease genetics. HBM may arise from carriage of many 'high bone …

Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome
(GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which …

Sclerosing bone disorders can be subdivided according to their clinical presentation, the
primarily affected cell type, and the cellular pathways. Osteoclast‐rich osteopetrosis and …

Progressive diaphyseal dysplasia (PDD)(Camurati–Engelmann disease) is an autosomal
dominant craniotubular dysplasia characterized by hyperostosis and sclerosis of the …

We report a 32‐year‐old man and his 59‐year‐old mother with a unique and extensive
variant of Camurati‐Engelmann disease (CED) featuring histopathological changes of …

The group of sclerosing bone dysplasia's is a clinically and genetically heterogeneous
group of rare bone disorders which, according to the latest Nosology and classification of …

PURPOSE: To determine the conventional radiographic, computed tomographic (CT),
magnetic resonance (MR) imaging, scintigraphic, and histologic features of intramedullary …

Ghosal hematodiaphyseal dysplasia is a rare autosomal recessive disorder characterized
by metadiaphyseal dysplasia of long bones and defective hematopoiesis due to fibrosis or …