Osteopoikilosis
From Wikipedia, the free encyclopedia
| Osteopoikilosis Classification and external resources |
|
| ICD-10 | Q78.8 |
|---|---|
| ICD-9 | 756.53 |
| OMIM | 166700 |
| DiseasesDB | 30071 |
| eMedicine | derm/733 |
| MeSH | D010023 |
Osteopoikilosis is an inherited disorder of the bone.[1]
Men and women are affected in equal number.[2]
It can be associated with melorheostosis.[3]
Buschke-Ollendorff syndrome is a similar condition,[5] which is also associated with LEMD3.[6]
[edit] References
- ^ Bull M, Calderbank P, Ramachandran N (2007). "A cause for concern? Osteopoikilosis found incidentally in the emergency department: a case report". Emerg Med J 24 (5): e29. doi:. PMID 17452689.
- ^ Serdaroğlu M, Capkin E, Uçüncü F, Tosun M (2007). "Case report of a patient with osteopoikilosis". Rheumatol. Int. 27 (7): 683–6. doi:. PMID 17106662.
- ^ Nevin NC, Thomas PS, Davis RI, Cowie GH (1999). "Melorheostosis in a family with autosomal dominant osteopoikilosis". Am. J. Med. Genet. 82 (5): 409–14. doi:. PMID 10069713.
- ^ Hellemans J, Preobrazhenska O, Willaert A, et al (2004). "Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis". Nat. Genet. 36 (11): 1213–8. doi:. PMID 15489854.
- ^ synd/1803 at Who Named It
- ^ Mumm S, Wenkert D, Zhang X, McAlister WH, Mier RJ, Whyte MP (2007). "Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis". J. Bone Miner. Res. 22 (2): 243–50. doi:. PMID 17087626.
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