Orthopaedic Manifestations in de Barsy Syndrome
de Barsy syndrome is a rare, genetically transmitted condition characterized by severe cutis laxa, joint hypermobility, growth retardation, mental retardation, and characteristic facies. Affected individuals have many orthopaedic manifestations, including developmental dysplasia of the hip, scoliosi...
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| Veröffentlicht in: | Journal of pediatric orthopaedics 1994-01, Vol.14 (1), p.60-62 |
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| container_title | Journal of pediatric orthopaedics |
| container_volume | 14 |
| creator | Stanton, Robert P Rao, Nitin Scott, Charles I |
| description | de Barsy syndrome is a rare, genetically transmitted condition characterized by severe cutis laxa, joint hypermobility, growth retardation, mental retardation, and characteristic facies. Affected individuals have many orthopaedic manifestations, including developmental dysplasia of the hip, scoliosis, multiple joint dislocations and subluxations, and congenital vertical talus. The management of the orthopaedic manifestations of this syndrome is presented in two typical cases. |
| doi_str_mv | 10.1097/01241398-199401000-00013 |
| format | Article |
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Affected individuals have many orthopaedic manifestations, including developmental dysplasia of the hip, scoliosis, multiple joint dislocations and subluxations, and congenital vertical talus. The management of the orthopaedic manifestations of this syndrome is presented in two typical cases.</description><identifier>ISSN: 0271-6798</identifier><identifier>EISSN: 1539-2570</identifier><identifier>DOI: 10.1097/01241398-199401000-00013</identifier><identifier>PMID: 8113374</identifier><identifier>CODEN: JPORDO</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott-Raven Publishers</publisher><subject>Biological and medical sciences ; Bone Diseases - congenital ; Bone Diseases - diagnostic imaging ; Bone Diseases - genetics ; Bone Diseases - therapy ; Cutis Laxa - genetics ; Female ; Foot Deformities, Congenital - diagnostic imaging ; Foot Deformities, Congenital - therapy ; General aspects. 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Genetic counseling</subject><subject>Hand Deformities, Congenital - diagnostic imaging</subject><subject>Hand Deformities, Congenital - therapy</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Intellectual Disability - genetics</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Radiography</subject><subject>Syndrome</subject><issn>0271-6798</issn><issn>1539-2570</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kUtPwzAMgCMEGmPwE5B6QNzKkiZpkiNMvKShHYBzlCauVuhjJK2m_XsCK7txsCLZn2PrM0IJwTcEKzHHJGOEKpkSpRgmGOM0BqFHaEo4VWnGBT5GU5wJkuZCyVN0FsJHJARldIImkhBKBZui-cr3625jwFU2eTFtVULoTV91bUiqNnGQ3BkfdsnrrnW-a-AcnZSmDnAxvjP0_nD_tnhKl6vH58XtMrWZUjSlimWlJK7gxNlc2EJZTkAZ4NJyo8AJkMw6xUpLqSmN4zyXihUFJpCpmJyh6_2_G999DXEn3VTBQl2bFrohaJFTwXGeR1DuQeu7EDyUeuOrxvidJlj_uNJ_rvTBlf51FVsvxxlD0YA7NI5yYv1qrJtgTV1609oqHDAqWcaZiBjbY9uu7sGHz3rYgtdrMHW_1v9din4DwFWAKQ</recordid><startdate>199401</startdate><enddate>199401</enddate><creator>Stanton, Robert P</creator><creator>Rao, Nitin</creator><creator>Scott, Charles I</creator><general>Lippincott-Raven Publishers</general><general>Lippincott</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>7X8</scope></search><sort><creationdate>199401</creationdate><title>Orthopaedic Manifestations in de Barsy Syndrome</title><author>Stanton, Robert P ; Rao, Nitin ; Scott, Charles I</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2993-3942f81db51dc67cb9c51e9ae58c5a9ed7e84cd94fc33afad556894bb01e29fc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Biological and medical sciences</topic><topic>Bone Diseases - congenital</topic><topic>Bone Diseases - diagnostic imaging</topic><topic>Bone Diseases - genetics</topic><topic>Bone Diseases - therapy</topic><topic>Cutis Laxa - genetics</topic><topic>Female</topic><topic>Foot Deformities, Congenital - diagnostic imaging</topic><topic>Foot Deformities, Congenital - therapy</topic><topic>General aspects. Genetic counseling</topic><topic>Hand Deformities, Congenital - diagnostic imaging</topic><topic>Hand Deformities, Congenital - therapy</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Intellectual Disability - genetics</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Radiography</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Stanton, Robert P</creatorcontrib><creatorcontrib>Rao, Nitin</creatorcontrib><creatorcontrib>Scott, Charles I</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>MEDLINE - Academic</collection><jtitle>Journal of pediatric orthopaedics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Stanton, Robert P</au><au>Rao, Nitin</au><au>Scott, Charles I</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Orthopaedic Manifestations in de Barsy Syndrome</atitle><jtitle>Journal of pediatric orthopaedics</jtitle><addtitle>J Pediatr Orthop</addtitle><date>1994-01</date><risdate>1994</risdate><volume>14</volume><issue>1</issue><spage>60</spage><epage>62</epage><pages>60-62</pages><issn>0271-6798</issn><eissn>1539-2570</eissn><coden>JPORDO</coden><abstract>de Barsy syndrome is a rare, genetically transmitted condition characterized by severe cutis laxa, joint hypermobility, growth retardation, mental retardation, and characteristic facies. 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| fulltext | fulltext |
| identifier | ISSN: 0271-6798 |
| ispartof | Journal of pediatric orthopaedics, 1994-01, Vol.14 (1), p.60-62 |
| issn | 0271-6798 1539-2570 |
| language | eng |
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| source | MEDLINE; Journals@Ovid Complete |
| subjects | Biological and medical sciences Bone Diseases - congenital Bone Diseases - diagnostic imaging Bone Diseases - genetics Bone Diseases - therapy Cutis Laxa - genetics Female Foot Deformities, Congenital - diagnostic imaging Foot Deformities, Congenital - therapy General aspects. Genetic counseling Hand Deformities, Congenital - diagnostic imaging Hand Deformities, Congenital - therapy Humans Infant, Newborn Intellectual Disability - genetics Male Medical genetics Medical sciences Radiography Syndrome |
| title | Orthopaedic Manifestations in de Barsy Syndrome |
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