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 of this and other rare genetic disorders that cause dense bones could disclose approaches to more common health problems such as osteoporosis. J Med ...

Camurati-Engelmann Disease [Progressive Diaphyseal Dysplasia] Summary Disease characteristics. Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, severe limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.

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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) of Bologna described a rare type of ...

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 This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data from 10 other previously reported CED ...

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 case of Engelmann’s disease that had dilated cardiomyopathy. This association has never been previously described, to the best of our knowledge. ...

"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 stature Endocrine conditions Hypopituitarism