The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, short neck associated with variable degrees of coxa vara. Cervical cord compression is the most hazardous skeletal deformity in patients with SEDC which requi...
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| Veröffentlicht in: | Medicine (Baltimore) 2019-01, Vol.98 (1), p.e13780-e13780 |
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| creator | Al Kaissi, Ali Ryabykh, Sergey Pavlova, Olga M. Ochirova, Polina Kenis, Vladimir Chehida, Farid Ben Ganger, Rudolf Grill, Franz Kircher, Susanne Gerit |
| description | Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, short neck associated with variable degrees of coxa vara. Cervical cord compression is the most hazardous skeletal deformity in patients with SEDC which requires special attention and management.Ten patients with the clinical and the radiographic phenotypes of spondyloepiphyseal dysplasia congenita have been recognized and the genotype was compatible with single base substitutions, deletions or duplication of part of the COL2A1 gene (6 patients out of ten have been sequenced). Cervical spine radiographs showed apparent atlantoaxial instability in correlation with odontoid hypoplasia or os-odontoideum.Instability of 8 mm or more and or the presence of symptoms of myelopathy were the main indications for surgery. Posterior cervical fusion from the occiput or C1-3, decompression of C1-2 and application of autorib transfer followed by halo vest immobilization have been applied accordingly.Orthopedic management of children with spondyloepiphyseal dysplasia congenita (SEDC) should begin with the cervical spine to avoid serious neurological deficits and or mortality. |
| doi_str_mv | 10.1097/MD.0000000000013780 |
| format | Article |
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Cervical cord compression is the most hazardous skeletal deformity in patients with SEDC which requires special attention and management.Ten patients with the clinical and the radiographic phenotypes of spondyloepiphyseal dysplasia congenita have been recognized and the genotype was compatible with single base substitutions, deletions or duplication of part of the COL2A1 gene (6 patients out of ten have been sequenced). Cervical spine radiographs showed apparent atlantoaxial instability in correlation with odontoid hypoplasia or os-odontoideum.Instability of 8 mm or more and or the presence of symptoms of myelopathy were the main indications for surgery. Posterior cervical fusion from the occiput or C1-3, decompression of C1-2 and application of autorib transfer followed by halo vest immobilization have been applied accordingly.Orthopedic management of children with spondyloepiphyseal dysplasia congenita (SEDC) should begin with the cervical spine to avoid serious neurological deficits and or mortality.</description><identifier>ISSN: 0025-7974</identifier><identifier>EISSN: 1536-5964</identifier><identifier>DOI: 10.1097/MD.0000000000013780</identifier><identifier>PMID: 30608389</identifier><language>eng</language><publisher>United States: the Author(s). Published by Wolters Kluwer Health, Inc</publisher><subject>Adolescent ; Axis, Cervical Vertebra - surgery ; Cervical Vertebrae - diagnostic imaging ; Cervical Vertebrae - surgery ; Child ; Child, Preschool ; Collagen Type II - genetics ; Decompression, Surgical - methods ; Female ; Humans ; Joint Instability - congenital ; Joint Instability - surgery ; Male ; Observational Study ; Osteochondrodysplasias - complications ; Osteochondrodysplasias - congenital ; Osteochondrodysplasias - genetics ; Osteochondrodysplasias - surgery ; Spinal Cord Compression - congenital ; Spinal Cord Compression - surgery ; Spinal Cord Diseases - congenital ; Spinal Cord Diseases - surgery ; Spinal Diseases - congenital ; Spinal Diseases - surgery ; Spinal Fusion - methods ; Treatment Outcome</subject><ispartof>Medicine (Baltimore), 2019-01, Vol.98 (1), p.e13780-e13780</ispartof><rights>the Author(s). Published by Wolters Kluwer Health, Inc.</rights><rights>Copyright © 2019 the Author(s). Published by Wolters Kluwer Health, Inc. 2019</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3559-63d845e0de06ff8aba28d2c022e4df288caba84210696f7f018c087a4016181e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344193/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344193/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,27903,27904,53769,53771</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30608389$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Al Kaissi, Ali</creatorcontrib><creatorcontrib>Ryabykh, Sergey</creatorcontrib><creatorcontrib>Pavlova, Olga M.</creatorcontrib><creatorcontrib>Ochirova, Polina</creatorcontrib><creatorcontrib>Kenis, Vladimir</creatorcontrib><creatorcontrib>Chehida, Farid Ben</creatorcontrib><creatorcontrib>Ganger, Rudolf</creatorcontrib><creatorcontrib>Grill, Franz</creatorcontrib><creatorcontrib>Kircher, Susanne Gerit</creatorcontrib><title>The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study</title><title>Medicine (Baltimore)</title><addtitle>Medicine (Baltimore)</addtitle><description>Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, short neck associated with variable degrees of coxa vara. Cervical cord compression is the most hazardous skeletal deformity in patients with SEDC which requires special attention and management.Ten patients with the clinical and the radiographic phenotypes of spondyloepiphyseal dysplasia congenita have been recognized and the genotype was compatible with single base substitutions, deletions or duplication of part of the COL2A1 gene (6 patients out of ten have been sequenced). Cervical spine radiographs showed apparent atlantoaxial instability in correlation with odontoid hypoplasia or os-odontoideum.Instability of 8 mm or more and or the presence of symptoms of myelopathy were the main indications for surgery. Posterior cervical fusion from the occiput or C1-3, decompression of C1-2 and application of autorib transfer followed by halo vest immobilization have been applied accordingly.Orthopedic management of children with spondyloepiphyseal dysplasia congenita (SEDC) should begin with the cervical spine to avoid serious neurological deficits and or mortality.</description><subject>Adolescent</subject><subject>Axis, Cervical Vertebra - surgery</subject><subject>Cervical Vertebrae - diagnostic imaging</subject><subject>Cervical Vertebrae - surgery</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Collagen Type II - genetics</subject><subject>Decompression, Surgical - methods</subject><subject>Female</subject><subject>Humans</subject><subject>Joint Instability - congenital</subject><subject>Joint Instability - surgery</subject><subject>Male</subject><subject>Observational Study</subject><subject>Osteochondrodysplasias - complications</subject><subject>Osteochondrodysplasias - congenital</subject><subject>Osteochondrodysplasias - genetics</subject><subject>Osteochondrodysplasias - surgery</subject><subject>Spinal Cord Compression - congenital</subject><subject>Spinal Cord Compression - surgery</subject><subject>Spinal Cord Diseases - congenital</subject><subject>Spinal Cord Diseases - surgery</subject><subject>Spinal Diseases - congenital</subject><subject>Spinal Diseases - surgery</subject><subject>Spinal Fusion - methods</subject><subject>Treatment Outcome</subject><issn>0025-7974</issn><issn>1536-5964</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkU1v1DAQhi0EokvhFyChHLmkHX_EcTggoRYoUle9lLPldSYbg9cOdtJV-PVku6V8-GJp_Mwztl9CXlM4o9DU5-vLM_izKK8VPCErWnFZVo0UT8kKgFVl3dTihLzI-ds9xMRzcsJBguKqWZGftz0WaxPMdodhLGJXWEx3zhpf5MEFLMwmxLQz3o0Oc-FCYXvn24Sh2LuxX6AY2tlHHNzQzxmXvnbOgzfZmcLGsMXgRvOuuNnkxWtGF8NBPU7t_JI864zP-OphPyVfP328vbgqr28-f7n4cF1aXlVNKXmrRIXQIsiuU2ZjmGqZBcZQtB1Tyi4lJRgF2ciu7oAqC6o2AqikiiI_Je-P3mHa7LC1yzuT8XpIbmfSrKNx-t-T4Hq9jXdaciFowxfB2wdBij8mzKPeuWzRexMwTlkzKgUFTusDyo-oTTHnhN3jGAr6kJpeX-r_U1u63vx9w8ee3zEtgDgC--hHTPm7n_aYdL9899jf-6q6YSUD2gAFAeWh1PBf21alzQ</recordid><startdate>20190101</startdate><enddate>20190101</enddate><creator>Al Kaissi, Ali</creator><creator>Ryabykh, Sergey</creator><creator>Pavlova, Olga M.</creator><creator>Ochirova, Polina</creator><creator>Kenis, Vladimir</creator><creator>Chehida, Farid Ben</creator><creator>Ganger, Rudolf</creator><creator>Grill, Franz</creator><creator>Kircher, Susanne Gerit</creator><general>the Author(s). Published by Wolters Kluwer Health, Inc</general><general>Wolters Kluwer Health</general><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><scope>5PM</scope></search><sort><creationdate>20190101</creationdate><title>The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study</title><author>Al Kaissi, Ali ; Ryabykh, Sergey ; Pavlova, Olga M. ; Ochirova, Polina ; Kenis, Vladimir ; Chehida, Farid Ben ; Ganger, Rudolf ; Grill, Franz ; Kircher, Susanne Gerit</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3559-63d845e0de06ff8aba28d2c022e4df288caba84210696f7f018c087a4016181e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Adolescent</topic><topic>Axis, Cervical Vertebra - surgery</topic><topic>Cervical Vertebrae - diagnostic imaging</topic><topic>Cervical Vertebrae - surgery</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Collagen Type II - genetics</topic><topic>Decompression, Surgical - methods</topic><topic>Female</topic><topic>Humans</topic><topic>Joint Instability - congenital</topic><topic>Joint Instability - surgery</topic><topic>Male</topic><topic>Observational Study</topic><topic>Osteochondrodysplasias - complications</topic><topic>Osteochondrodysplasias - congenital</topic><topic>Osteochondrodysplasias - genetics</topic><topic>Osteochondrodysplasias - surgery</topic><topic>Spinal Cord Compression - congenital</topic><topic>Spinal Cord Compression - surgery</topic><topic>Spinal Cord Diseases - congenital</topic><topic>Spinal Cord Diseases - surgery</topic><topic>Spinal Diseases - congenital</topic><topic>Spinal Diseases - surgery</topic><topic>Spinal Fusion - methods</topic><topic>Treatment Outcome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Al Kaissi, Ali</creatorcontrib><creatorcontrib>Ryabykh, Sergey</creatorcontrib><creatorcontrib>Pavlova, Olga M.</creatorcontrib><creatorcontrib>Ochirova, Polina</creatorcontrib><creatorcontrib>Kenis, Vladimir</creatorcontrib><creatorcontrib>Chehida, Farid Ben</creatorcontrib><creatorcontrib>Ganger, Rudolf</creatorcontrib><creatorcontrib>Grill, Franz</creatorcontrib><creatorcontrib>Kircher, Susanne Gerit</creatorcontrib><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><collection>PubMed Central (Full Participant titles)</collection><jtitle>Medicine (Baltimore)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Al Kaissi, Ali</au><au>Ryabykh, Sergey</au><au>Pavlova, Olga M.</au><au>Ochirova, Polina</au><au>Kenis, Vladimir</au><au>Chehida, Farid Ben</au><au>Ganger, Rudolf</au><au>Grill, Franz</au><au>Kircher, Susanne Gerit</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study</atitle><jtitle>Medicine (Baltimore)</jtitle><addtitle>Medicine (Baltimore)</addtitle><date>2019-01-01</date><risdate>2019</risdate><volume>98</volume><issue>1</issue><spage>e13780</spage><epage>e13780</epage><pages>e13780-e13780</pages><issn>0025-7974</issn><eissn>1536-5964</eissn><abstract>Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, short neck associated with variable degrees of coxa vara. Cervical cord compression is the most hazardous skeletal deformity in patients with SEDC which requires special attention and management.Ten patients with the clinical and the radiographic phenotypes of spondyloepiphyseal dysplasia congenita have been recognized and the genotype was compatible with single base substitutions, deletions or duplication of part of the COL2A1 gene (6 patients out of ten have been sequenced). Cervical spine radiographs showed apparent atlantoaxial instability in correlation with odontoid hypoplasia or os-odontoideum.Instability of 8 mm or more and or the presence of symptoms of myelopathy were the main indications for surgery. Posterior cervical fusion from the occiput or C1-3, decompression of C1-2 and application of autorib transfer followed by halo vest immobilization have been applied accordingly.Orthopedic management of children with spondyloepiphyseal dysplasia congenita (SEDC) should begin with the cervical spine to avoid serious neurological deficits and or mortality.</abstract><cop>United States</cop><pub>the Author(s). Published by Wolters Kluwer Health, Inc</pub><pmid>30608389</pmid><doi>10.1097/MD.0000000000013780</doi><oa>free_for_read</oa></addata></record> |
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| source | Wolters Kluwer Open Health; MEDLINE; DOAJ Directory of Open Access Journals; IngentaConnect Free/Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Adolescent Axis, Cervical Vertebra - surgery Cervical Vertebrae - diagnostic imaging Cervical Vertebrae - surgery Child Child, Preschool Collagen Type II - genetics Decompression, Surgical - methods Female Humans Joint Instability - congenital Joint Instability - surgery Male Observational Study Osteochondrodysplasias - complications Osteochondrodysplasias - congenital Osteochondrodysplasias - genetics Osteochondrodysplasias - surgery Spinal Cord Compression - congenital Spinal Cord Compression - surgery Spinal Cord Diseases - congenital Spinal Cord Diseases - surgery Spinal Diseases - congenital Spinal Diseases - surgery Spinal Fusion - methods Treatment Outcome |
| title | The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study |
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