Ontology highlight
ABSTRACT:
SUBMITTER: Janssens K
PROVIDER: S-EPMC1734563 | biostudies-other | 2000 Apr
REPOSITORIES: biostudies-other
Janssens K K Gershoni-Baruch R R Van Hul E E Brik R R Guañabens N N Migone N N Verbruggen L A LA Ralston S H SH Bonduelle M M Van Maldergem L L Vanhoenacker F F Van Hul W W
Journal of medical genetics 20000401 4
Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone disease, characterised by progressive cortical expansion and sclerosis mainly affecting the diaphyses of the long bones associated with cranial hyperostosis. The main clinical features are severe pain in the legs, muscular weakness, and a waddling gait. The underlying cause of this condition remains unknown. In order to localise the disease causi ...[more]