Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Osteopoikilosis
Introduction
Overview
Overview
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]
References
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:10.1136/emj.2006.045765. PMID 17452689.
- ↑ SerdaroÄŸlu M, Capkin E, Uçüncü F, Tosun M (2007). “Case report of a patient with osteopoikilosis”. Rheumatol. Int. 27 (7): 683–6. doi:10.1007/s00296-006-0262-9. PMID 17106662.
- ↑ Nevin NC, Thomas PS, Davis RI, Cowie GH (1999). <409::AID-AJMG10>3.0.CO;2-2 “Melorheostosis in a family with autosomal dominant osteopoikilosis”. Am. J. Med. Genet. 82 (5): 409–14. 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:10.1038/ng1453. PMID 15489854.
- ↑ Template:WhoNamedIt
- ↑ 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:10.1359/jbmr.061102. PMID 17087626.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]