Svensk definition
Tilltagande förtjockning av rörbenens diafyseala barkskikt.
Camurati-Engelmann Syndrome
Camurati-Engelmanns syndrom
Engelsk definition
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.
Svenska synonymer
Camurati-Engelmanns syndrom — Engelmanns sjukdom — Diafysdysplasi, progressiv
Engelska synonymer
Camurati Engelmann Syndrome — Engelmann's Disease — Engelmann Disease — Camurati-Engelmann Disease — Camurati Engelmann Disease — Diaphyseal Dysplasia, Progressive — Diaphyseal Hyperostosis — Diaphyseal Hyperostoses — Hyperostoses, Diaphyseal — Hyperostosis, Diaphyseal — Diaphyseal Dysplasia 1, Progressive — Progressive Diaphyseal Dysplasia — Diaphyseal Dysplasias, Progressive — Dysplasia, Progressive Diaphyseal — Dysplasias, Progressive Diaphyseal