Progressive Diaphyseal Dysplasia (Subscribe)  

This report suggests that anticipation occurs in progressive diaphyseal dysplasia and widens the disease spectrum of this concept to bone dysplasias. A dynamic mutation with trinucleotide repeat expansion may or may not be the cause of this osteochondrodysplasia of dense bone with unknown pathogenesis. The search for the molecular explanation...

sclerosing diaphyseal dysplasia * does not involve metaphysis, epiphysis, or bone marrow cavity

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CAMURATI-ENGELMANN DISEASE Alternative titles; CED ENGELMANN DISEASE DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1 PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD Gene map locus 19q13.1 Camurati-Engelmann disease results from domain-specific mutations in the transforming growth factor-beta-1 gene (TGFB1; 190180). Also see Camurati-Engelmann disease type II (606631) in which no mutation in the TGFB1 gene has been found. CLINICAL FEATURES Camurati (1922)...

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment Journal of Medical Genetics 2006;43:1-11 Full Text Abstract Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings...

Engelmann's disease (progressive diaphyseal dysplasia) Brief history: Thirty-eight-year-old woman with a known history of a skeletal dysplasia. Bone scan images MIR Teaching file case bs109

Engelmann’s disease is a rare condition with usual onset in childhood. The presenta-tion is mainly with muscular weakness and waddling gait. Radiologically, it is a prog-ressive diaphyseal dysplasia extending from the center of tubular bone towards the peri-phery. Diverse clinical presentations have been described in the literature. We report a...

"An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder." 3 synonyms or equivalents were found. Engelmann's syndrome aka/or Progressive diaphyseal dysplasia aka/or Camurati-Engelmann disease may cause or feature Miscellaneous syndromes Hyperostosis Symptoms and Signs Tall...