Fibrodysplasia ossificans progressiva
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare and disabling genetic disorder of connective tissue. The condition is characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae, and striated muscles. Fibr...
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| Veröffentlicht in: | Pediatric radiology 2001-05, Vol.31 (5), p.307-314 |
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| creator | MAHBOUBI, Soroosh GLASER, David L SHORE, Eileen M KAPLAN, Frederick S |
| description | Fibrodysplasia ossificans progressiva (FOP) is an extremely rare and disabling genetic disorder of connective tissue. The condition is characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae, and striated muscles. Fibrodysplasia ossificans progressiva occurs sporadically and is transmitted as a dominant trait with variable expression and complete penetrance. Reproductive fitness is low. There are fewer than 150 known patients with the disorder in the United States. A point prevalence of one affected patient in every 2 million of population has been observed. There is no sexual, racial, or ethnic predilection. The disease presents in early life; its course is unavoidably progressive. Most patients are confined to a wheelchair by the third decade of life and often succumb to pulmonary complications in the 5th/6th decade of life. At present there is no effective prevention or treatment. The recent discovery of overproduction of bone morphogenetic protein-4 in lesional cells and lymphocytic cells of affected patients provides a clue to both the underlying pathophysiology and potential therapy. The FOP gene has recently been mapped to human chromosome 4q 27-31. |
| doi_str_mv | 10.1007/s002470100447 |
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The condition is characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae, and striated muscles. Fibrodysplasia ossificans progressiva occurs sporadically and is transmitted as a dominant trait with variable expression and complete penetrance. Reproductive fitness is low. There are fewer than 150 known patients with the disorder in the United States. A point prevalence of one affected patient in every 2 million of population has been observed. There is no sexual, racial, or ethnic predilection. The disease presents in early life; its course is unavoidably progressive. Most patients are confined to a wheelchair by the third decade of life and often succumb to pulmonary complications in the 5th/6th decade of life. At present there is no effective prevention or treatment. The recent discovery of overproduction of bone morphogenetic protein-4 in lesional cells and lymphocytic cells of affected patients provides a clue to both the underlying pathophysiology and potential therapy. The FOP gene has recently been mapped to human chromosome 4q 27-31.</description><identifier>ISSN: 0301-0449</identifier><identifier>EISSN: 1432-1998</identifier><identifier>DOI: 10.1007/s002470100447</identifier><identifier>PMID: 11379597</identifier><identifier>CODEN: PDRYA5</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>Adolescent ; Biological and medical sciences ; Bone Morphogenetic Proteins - metabolism ; Child ; Chromosomes, Human, Pair 4 ; Diseases of the osteoarticular system ; Female ; Genes, Dominant ; Humans ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical Futility ; Medical sciences ; Myositis Ossificans - diagnostic imaging ; Myositis Ossificans - genetics ; Myositis Ossificans - pathology ; Ossification, Heterotopic - pathology ; Radiography ; Self-Help Groups</subject><ispartof>Pediatric radiology, 2001-05, Vol.31 (5), p.307-314</ispartof><rights>2001 INIST-CNRS</rights><rights>Springer-Verlag Berlin Heidelberg 2001</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c344t-f7ee49dea10d399381e073ad127f97076f8c23d872ec13f3ca7a3c2f18910d913</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=968102$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11379597$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>MAHBOUBI, Soroosh</creatorcontrib><creatorcontrib>GLASER, David L</creatorcontrib><creatorcontrib>SHORE, Eileen M</creatorcontrib><creatorcontrib>KAPLAN, Frederick S</creatorcontrib><title>Fibrodysplasia ossificans progressiva</title><title>Pediatric radiology</title><addtitle>Pediatr Radiol</addtitle><description>Fibrodysplasia ossificans progressiva (FOP) is an extremely rare and disabling genetic disorder of connective tissue. The condition is characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae, and striated muscles. Fibrodysplasia ossificans progressiva occurs sporadically and is transmitted as a dominant trait with variable expression and complete penetrance. Reproductive fitness is low. There are fewer than 150 known patients with the disorder in the United States. A point prevalence of one affected patient in every 2 million of population has been observed. There is no sexual, racial, or ethnic predilection. The disease presents in early life; its course is unavoidably progressive. Most patients are confined to a wheelchair by the third decade of life and often succumb to pulmonary complications in the 5th/6th decade of life. At present there is no effective prevention or treatment. The recent discovery of overproduction of bone morphogenetic protein-4 in lesional cells and lymphocytic cells of affected patients provides a clue to both the underlying pathophysiology and potential therapy. The FOP gene has recently been mapped to human chromosome 4q 27-31.</description><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Bone Morphogenetic Proteins - metabolism</subject><subject>Child</subject><subject>Chromosomes, Human, Pair 4</subject><subject>Diseases of the osteoarticular system</subject><subject>Female</subject><subject>Genes, Dominant</subject><subject>Humans</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical Futility</subject><subject>Medical sciences</subject><subject>Myositis Ossificans - diagnostic imaging</subject><subject>Myositis Ossificans - genetics</subject><subject>Myositis Ossificans - pathology</subject><subject>Ossification, Heterotopic - pathology</subject><subject>Radiography</subject><subject>Self-Help Groups</subject><issn>0301-0449</issn><issn>1432-1998</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNpd0EFLwzAUB_AgipvTo1cZit6q7-VlTXIcw6kw8KLnkqWJdHTtTFZh397oiqKnJI9fXvL-jJ0j3CKAvIsAXEhIeyHkARuiIJ6h1uqQDYEAs1TXA3YS4woAaIJ0zAaIJPVEyyG7nlfL0Ja7uKlNrMy4jbHylTVNHG9C-xZcOn-YU3bkTR3dWb-O2Ov8_mX2mC2eH55m00VmSYht5qVzQpfOIJSkNSl0IMmUyKXXEmTuleVUKsmdRfJkjTRkuUel0w2NNGI3-77p7ffOxW2xrqJ1dW0a13axkKByKaRI8PIfXLVdaNLfCs55rhT_Rtke2ZDGCs4Xm1CtTdgVCMVXeMWf8JK_6Jt2y7Urf3WfVgJXPTDRmtoH09gq_jidKwROn86LdBA</recordid><startdate>20010501</startdate><enddate>20010501</enddate><creator>MAHBOUBI, Soroosh</creator><creator>GLASER, David L</creator><creator>SHORE, Eileen M</creator><creator>KAPLAN, Frederick S</creator><general>Springer</general><general>Springer Nature B.V</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QP</scope><scope>7RV</scope><scope>7TK</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>LK8</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20010501</creationdate><title>Fibrodysplasia ossificans progressiva</title><author>MAHBOUBI, Soroosh ; GLASER, David L ; SHORE, Eileen M ; KAPLAN, Frederick S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c344t-f7ee49dea10d399381e073ad127f97076f8c23d872ec13f3ca7a3c2f18910d913</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Bone Morphogenetic Proteins - metabolism</topic><topic>Child</topic><topic>Chromosomes, Human, Pair 4</topic><topic>Diseases of the osteoarticular system</topic><topic>Female</topic><topic>Genes, Dominant</topic><topic>Humans</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical Futility</topic><topic>Medical sciences</topic><topic>Myositis Ossificans - diagnostic imaging</topic><topic>Myositis Ossificans - genetics</topic><topic>Myositis Ossificans - pathology</topic><topic>Ossification, Heterotopic - pathology</topic><topic>Radiography</topic><topic>Self-Help Groups</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>MAHBOUBI, Soroosh</creatorcontrib><creatorcontrib>GLASER, David L</creatorcontrib><creatorcontrib>SHORE, Eileen M</creatorcontrib><creatorcontrib>KAPLAN, Frederick S</creatorcontrib><collection>Pascal-Francis</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>Calcium & Calcified Tissue Abstracts</collection><collection>ProQuest Nursing & Allied Health Database</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>ProQuest Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology 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)</collection><collection>ProQuest Central UK/Ireland</collection><collection>Advanced Technologies & Aerospace Database (1962 - current)</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Biological Sciences</collection><collection>ProQuest Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest advanced technologies & aerospace journals</collection><collection>ProQuest Advanced Technologies & Aerospace Collection</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>MEDLINE - Academic</collection><jtitle>Pediatric radiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>MAHBOUBI, Soroosh</au><au>GLASER, David L</au><au>SHORE, Eileen M</au><au>KAPLAN, Frederick S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Fibrodysplasia ossificans progressiva</atitle><jtitle>Pediatric radiology</jtitle><addtitle>Pediatr Radiol</addtitle><date>2001-05-01</date><risdate>2001</risdate><volume>31</volume><issue>5</issue><spage>307</spage><epage>314</epage><pages>307-314</pages><issn>0301-0449</issn><eissn>1432-1998</eissn><coden>PDRYA5</coden><abstract>Fibrodysplasia ossificans progressiva (FOP) is an extremely rare and disabling genetic disorder of connective tissue. The condition is characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae, and striated muscles. Fibrodysplasia ossificans progressiva occurs sporadically and is transmitted as a dominant trait with variable expression and complete penetrance. Reproductive fitness is low. There are fewer than 150 known patients with the disorder in the United States. A point prevalence of one affected patient in every 2 million of population has been observed. There is no sexual, racial, or ethnic predilection. The disease presents in early life; its course is unavoidably progressive. Most patients are confined to a wheelchair by the third decade of life and often succumb to pulmonary complications in the 5th/6th decade of life. At present there is no effective prevention or treatment. The recent discovery of overproduction of bone morphogenetic protein-4 in lesional cells and lymphocytic cells of affected patients provides a clue to both the underlying pathophysiology and potential therapy. The FOP gene has recently been mapped to human chromosome 4q 27-31.</abstract><cop>Berlin</cop><pub>Springer</pub><pmid>11379597</pmid><doi>10.1007/s002470100447</doi><tpages>8</tpages></addata></record> |
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| ispartof | Pediatric radiology, 2001-05, Vol.31 (5), p.307-314 |
| issn | 0301-0449 1432-1998 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Adolescent Biological and medical sciences Bone Morphogenetic Proteins - metabolism Child Chromosomes, Human, Pair 4 Diseases of the osteoarticular system Female Genes, Dominant Humans Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical Futility Medical sciences Myositis Ossificans - diagnostic imaging Myositis Ossificans - genetics Myositis Ossificans - pathology Ossification, Heterotopic - pathology Radiography Self-Help Groups |
| title | Fibrodysplasia ossificans progressiva |
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