Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1
The condition is inherited as an autosomal dominant trait (MIM 166300) but many isolated or de novo cases have been described. 2-5 Autosomal recessive inheritance has also been suggested. 6 The symptoms may present as early as the first year of life 2 and most often affect the carpal and tarsal bone...
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| Veröffentlicht in: | Journal of medical genetics 2000-11, Vol.37 (11), p.e34-34 |
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| creator | DE RAVEL, T J L MATTHIJS, G HOLVOET, M WOUTERS, C LEGIUS, E FRYNS, J P |
| description | The condition is inherited as an autosomal dominant trait (MIM 166300) but many isolated or de novo cases have been described. 2-5 Autosomal recessive inheritance has also been suggested. 6 The symptoms may present as early as the first year of life 2 and most often affect the carpal and tarsal bones in an inflammatory-like fashion. A typical facies develops in these patients, including maxillary hypoplasia and associated exophthalmia, a slender nose, and micrognathia. 2 3 7 Nephropathy has been associated with IMO in some families. 8 Familial expansile osteolysis had been linked to chromosome 18q21.1-q22, 9 and mutations in the TNFRSF11A gene have recently been reported to cause familial expansile osteolysis. 10 We present a three generation family in which nine members are affected with idiopathic multicentric osteolysis (fig 1 ). |
| doi_str_mv | 10.1136/jmg.37.11.e34 |
| format | Article |
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A typical facies develops in these patients, including maxillary hypoplasia and associated exophthalmia, a slender nose, and micrognathia. 2 3 7 Nephropathy has been associated with IMO in some families. 8 Familial expansile osteolysis had been linked to chromosome 18q21.1-q22, 9 and mutations in the TNFRSF11A gene have recently been reported to cause familial expansile osteolysis. 10 We present a three generation family in which nine members are affected with idiopathic multicentric osteolysis (fig 1 ).</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.37.11.e34</identifier><identifier>PMID: 11073543</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Adult ; Bones ; Child ; Chromosomes, Human, Pair 18 - genetics ; Deoxyribonucleic acid ; DNA ; DNA - genetics ; Electronic Letters ; Family Health ; Female ; Foot Deformities ; Genes ; Genetic Linkage ; Hand Deformities ; Humans ; Lod Score ; Male ; Maxillofacial Abnormalities ; Microsatellite Repeats ; Osteolysis, Essential - genetics ; Osteolysis, Essential - pathology ; Pedigree</subject><ispartof>Journal of medical genetics, 2000-11, Vol.37 (11), p.e34-34</ispartof><rights>Journal of Medical Genetics</rights><rights>Copyright: 2000 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b3664-f85108c5272a6f80691bb480811c46a818bb4a29a2f4d16286e749351767a0683</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734477/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734477/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11073543$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>DE RAVEL, T J L</creatorcontrib><creatorcontrib>MATTHIJS, G</creatorcontrib><creatorcontrib>HOLVOET, M</creatorcontrib><creatorcontrib>WOUTERS, C</creatorcontrib><creatorcontrib>LEGIUS, E</creatorcontrib><creatorcontrib>FRYNS, J P</creatorcontrib><title>Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>The condition is inherited as an autosomal dominant trait (MIM 166300) but many isolated or de novo cases have been described. 2-5 Autosomal recessive inheritance has also been suggested. 6 The symptoms may present as early as the first year of life 2 and most often affect the carpal and tarsal bones in an inflammatory-like fashion. 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MATTHIJS, G ; HOLVOET, M ; WOUTERS, C ; LEGIUS, E ; FRYNS, J P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b3664-f85108c5272a6f80691bb480811c46a818bb4a29a2f4d16286e749351767a0683</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adult</topic><topic>Bones</topic><topic>Child</topic><topic>Chromosomes, Human, Pair 18 - genetics</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>DNA - genetics</topic><topic>Electronic Letters</topic><topic>Family Health</topic><topic>Female</topic><topic>Foot Deformities</topic><topic>Genes</topic><topic>Genetic Linkage</topic><topic>Hand Deformities</topic><topic>Humans</topic><topic>Lod Score</topic><topic>Male</topic><topic>Maxillofacial Abnormalities</topic><topic>Microsatellite Repeats</topic><topic>Osteolysis, Essential - genetics</topic><topic>Osteolysis, Essential - pathology</topic><topic>Pedigree</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>DE RAVEL, T J L</creatorcontrib><creatorcontrib>MATTHIJS, G</creatorcontrib><creatorcontrib>HOLVOET, M</creatorcontrib><creatorcontrib>WOUTERS, C</creatorcontrib><creatorcontrib>LEGIUS, E</creatorcontrib><creatorcontrib>FRYNS, J P</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>DE RAVEL, T J L</au><au>MATTHIJS, G</au><au>HOLVOET, M</au><au>WOUTERS, C</au><au>LEGIUS, E</au><au>FRYNS, J P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2000-11-01</date><risdate>2000</risdate><volume>37</volume><issue>11</issue><spage>e34</spage><epage>34</epage><pages>e34-34</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>The condition is inherited as an autosomal dominant trait (MIM 166300) but many isolated or de novo cases have been described. 2-5 Autosomal recessive inheritance has also been suggested. 6 The symptoms may present as early as the first year of life 2 and most often affect the carpal and tarsal bones in an inflammatory-like fashion. A typical facies develops in these patients, including maxillary hypoplasia and associated exophthalmia, a slender nose, and micrognathia. 2 3 7 Nephropathy has been associated with IMO in some families. 8 Familial expansile osteolysis had been linked to chromosome 18q21.1-q22, 9 and mutations in the TNFRSF11A gene have recently been reported to cause familial expansile osteolysis. 10 We present a three generation family in which nine members are affected with idiopathic multicentric osteolysis (fig 1 ).</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>11073543</pmid><doi>10.1136/jmg.37.11.e34</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Bones Child Chromosomes, Human, Pair 18 - genetics Deoxyribonucleic acid DNA DNA - genetics Electronic Letters Family Health Female Foot Deformities Genes Genetic Linkage Hand Deformities Humans Lod Score Male Maxillofacial Abnormalities Microsatellite Repeats Osteolysis, Essential - genetics Osteolysis, Essential - pathology Pedigree |
| title | Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1 |
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