|
Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is a form of dysplasia. Patients typically have heavily thickened bones, especially along the shafts of the long bones (called diaphyseal dysplasia). The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, possibly leading to sensory deficits, blindness, or deafness. This disease often appears in childhood and is considered to be inherited, however some patients have no previous history of CED within their family. The disease is slowly progressive and, while there is no cure, there is treatment. It is named for M. Camurati and G. Engelmann. Camurati–Engelmann disease is also known as Engelmann disease (ED), Engelmann syndrome (ES), Camurati–Engelmann syndrome (CES) or progressive diaphyseal dysplasia (PDD), which are the most common alternative names of the disease. Other names include osteopathia hyperostotica scleroticans and multiplex infantalis. ==Classification== There are two forms: * Type 1 is associated with TGFB1 * Type 2 is not associated with TGFB1 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Camurati–Engelmann disease」の詳細全文を読む スポンサード リンク
|