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Osteopoikilosis



Osteopoikilosis
Classification & 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]

It has been tied to LEMD3.[4]

Buschke-Ollendorff syndrome is a similar condition,[5] which is also associated with LEMD3.[6]

References

  1. ^ 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.
  2. ^ Serdaroğlu 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.
  3. ^ 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.
  4. ^ 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.
  5. ^ synd/1803 at Who Named It
  6. ^ 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.


v • d • e
Congenital malformations and deformations of musculoskeletal system (Q65-Q79, 754-756)
Limbship: Dislocation of hip/Hip dysplasia

feet (Club foot, Flat feet, Pes cavus)

head, face, spine and chest: skull, face and jaw (Dolichocephaly, Plagiocephaly) - Scoliosis - chest (Pectus excavatum, Pectus carinatum)

Polydactyly/Syndactyly (Webbed toes)

reduction deficits (Ectrodactyly, Amelia, Phocomelia)

upper limb (Cleidocranial dysostosis, Madelung's deformity, Sprengel's deformity)

knee (Genu valgum, Genu varum)

Arthrogryposis
Skull and face bonesCraniosynostosis (Scaphocephaly) - Trigonocephaly - Oxycephaly - Crouzon syndrome - Hypertelorism - Macrocephaly - Treacher Collins syndrome - Platybasia
Spine and bony thoraxKlippel-Feil syndrome - Spondylolisthesis - Cervical rib - Bifid rib
Osteochondrodysplasiagrowth of tubular bones and spine: Achondrogenesis - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), Achondroplasia (Hypochondroplasia, Osteosclerosis congenita) - Ellis-van Creveld syndrome - Spondyloepiphyseal dysplasia congenita
Osteogenesis imperfecta - McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Hereditary multiple exostoses - Osteopoikilosis - Chondrodystrophy - Osteodystrophy
Otherabdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome
See also non-congenital conditions (M, 710-739)
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Osteopoikilosis". A list of authors is available in Wikipedia.
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