Camurati–Engelmann disease
| Camurati–Engelmann disease | |
|---|---|
| Other names | Engelmann disease (ED), Engelmann syndrome (ES), Camurati–Engelmann syndrome (CES) or Progressive diaphyseal dysplasia (PDD),[1] Osteopathia hyperostotica scleroticans and Multiplex infantalis.[2] |
| This condition is inherited via autosomal dominance | |
| Specialty | Medical genetics |
Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is also known as progressive diaphyseal dysplasia. It is a form of dysplasia.[3] 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, many 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.[4]
- ^ Vanhoenacker, F. M., Janssens, K., Van Hul, W., Gershoni-Baruch, R., Brik, R., & De Schepper, A. M. (2003). Camurati-Engelmann Disease. Acta radiologica, 44(4), 430-434.
- ^ Mason, J., & Slee, I. (1968). Anaesthesia in Engelmann's disease. Anaesthesia, 23(2), 250-252.
- ^ Janssens K, Vanhoenacker F, Bonduelle M, et al. (January 2006). "Camurati-Engelman disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment". Journal of Medical Genetics. 43 (1): 1–11. doi:10.1136/jmg.2005.033522. PMC 2564495. PMID 15894597.
- ^ Online Mendelian Inheritance in Man (OMIM): 131300