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Diaphyseal dysplasia
Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life. [from GeneReviews]
Osteosclerosis with ichthyosis and fractures
Cortical thickening of long bone diaphyses
Abnormal thickening of the cortex of the diaphyseal region of long bones. [from HPO]
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