{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T09:05:51Z","timestamp":1753520751820},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"S3","license":[{"start":{"date-parts":[[2012,9,30]],"date-time":"2012-09-30T00:00:00Z","timestamp":1348963200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Spine J"],"published-print":{"date-parts":[[2013,5]]},"DOI":"10.1007\/s00586-012-2518-2","type":"journal-article","created":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T03:50:40Z","timestamp":1349063440000},"page":"409-415","source":"Crossref","is-referenced-by-count":1,"title":["Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV)"],"prefix":"10.1007","volume":"22","author":[{"given":"Ali Al","family":"Kaissi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farid Ben","family":"Chehida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maher Ben","family":"Ghachem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus","family":"Klaushofer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franz","family":"Grill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,9,30]]},"reference":[{"key":"2518_CR1","first-page":"479","volume-title":"Acquired Disorders of Cartilage and bone, vol Section IX, Chap 79","author":"M Whyte","year":"2003","unstructured":"Whyte M (2003) Acquired Disorders of Cartilage and bone, vol Section IX, Chap 79. American Society for Bone and Mineral Research, Washington DC, pp 479\u2013487"},{"key":"2518_CR2","first-page":"23","volume":"93","author":"L Ollier","year":"1900","unstructured":"Ollier L (1900) La dyschondroplasie. Lyon M\u00e9d 93:23\u201325","journal-title":"Lyon M\u00e9d"},{"key":"2518_CR3","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1007\/BF00442274","volume":"109","author":"P Maroteaux","year":"1971","unstructured":"Maroteaux P (1971) La metachondromatose. Z Kinderheilkd 109:246\u2013261","journal-title":"Z Kinderheilkd"},{"key":"2518_CR4","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1136\/jmg.28.7.485","volume":"28","author":"M Merrer Le","year":"1991","unstructured":"Le Merrer M, Fressinger P, Maroteaux P (1991) Genochondromatosis. J Med Genet 28:485\u2013489","journal-title":"J Med Genet"},{"key":"2518_CR5","first-page":"1066","volume":"39","author":"IF Anderson","year":"1965","unstructured":"Anderson IF (1965) Maffucci\u2019s syndrome: report of a case with a review of the literature. S Afr Med J 39:1066\u20131070","journal-title":"S Afr Med J"},{"issue":"2","key":"2518_CR6","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1136\/jmg.26.2.93","volume":"26","author":"M Menger","year":"1989","unstructured":"Menger M, Kruse K, Spranger J (1989) Spondyloenchondrodysplasia. J Med Genet 26(2):93\u201399","journal-title":"J Med Genet"},{"key":"2518_CR7","volume-title":"Bone dysplasias: an atlas of genetic disorders of skeletal development","author":"JW Spranger","year":"2002","unstructured":"Spranger JW, Brill PW, Poznanski AK (2002) Bone dysplasias: an atlas of genetic disorders of skeletal development, 2nd edn. Oxford University Press, New York","edition":"2"},{"key":"2518_CR8","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1002\/ajmg.1320380418","volume":"38","author":"F Halal","year":"1991","unstructured":"Halal F, Azouz EM (1991) Generalized enchondromatosis in a boy with only platyspondyly in the father. Am J Med Genet 38:588\u2013592","journal-title":"Am J Med Genet"},{"key":"2518_CR9","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1148\/118.1.133","volume":"118","author":"S Schorr","year":"1976","unstructured":"Schorr S, Legum C, Ochshorn M (1976) Spondyloenchondrodysplasia. Enchondromatosis with severe platyspondyly in two brothers. Radiology 118:133\u2013139","journal-title":"Radiology"},{"key":"2518_CR10","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/ajmg.1320360306","volume":"36","author":"M Frydman","year":"1990","unstructured":"Frydman M, Bar-Ziv J, Preminger-Shapiro R, Brezner A, Brand N, Ben-Ami T, Lachman RS, Gruber HE, Rimoin DL (1990) Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions. Am J Med Genet 36:279\u2013284","journal-title":"Am J Med Genet"},{"key":"2518_CR11","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1007\/s002560050611","volume":"29","author":"IS Talkhani","year":"2000","unstructured":"Talkhani IS, Saklatvala J, Dwyer JM (2000) D-2hydroxyglutaric aciduria in association with spondyloenchondromatosis. Skeletal Radiol 29:288\u2013292","journal-title":"Skeletal Radiol"},{"key":"2518_CR12","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1002\/ajmg.a.30078","volume":"128A","author":"B Tuysuz","year":"2004","unstructured":"Tuysuz B, Arapoglu M, Ungur S (2004) Spondyloenchondrodysplasia: clinical variability in three cases. Am J Med Genet 128A:185\u2013189","journal-title":"Am J Med Genet"},{"key":"2518_CR13","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1002\/ajmg.a.30732","volume":"135A","author":"R Bhargava","year":"2005","unstructured":"Bhargava R, Leonard NJ, Chan AKJ, Spranger J (2005) Autosomal dominant inheritance of spondyloenchondrodysplasia. Am J Med Genet 135A:282\u2013288","journal-title":"Am J Med Genet"},{"key":"2518_CR14","doi-asserted-by":"crossref","first-page":"1394","DOI":"10.1002\/ajmg.a.31755","volume":"143A","author":"R Renella","year":"2007","unstructured":"Renella R, Superti-Furga A (2007) A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on \u201c A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia\u201d by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni. Am J Med Genet 143A:1394\u20131395","journal-title":"Am J Med Genet"},{"key":"2518_CR15","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1002\/ajmg.1320450413","volume":"45","author":"P Freisinger","year":"1993","unstructured":"Freisinger P, Finidori G, Maroteaux P (1993) Dysspondylochondromatosis. Am J Med Genet 45:460\u2013464","journal-title":"Am J Med Genet"},{"key":"2518_CR16","volume-title":"Bone diseases of children","author":"P Maroteaux","year":"1995","unstructured":"Maroteaux P (1995) Bone diseases of children. Lippincott, Philadelphia"},{"key":"2518_CR17","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.ejrex.2007.06.004","volume":"63","author":"A Al Kaissi","year":"2007","unstructured":"Al Kaissi A, Klaushofer K, Grill F (2007) Progressive vertebral fusion in a girl with spinal enchondromatosis. Eur J Radiol Extra 63:125\u2013129","journal-title":"Eur J Radiol Extra"},{"key":"2518_CR18","first-page":"5","volume-title":"Dysmorphic Syndromes and Constitutional Diseases of the Skeleton, vol I","author":"G Canepa","year":"2001","unstructured":"Canepa G, Maroteaux P, Pietrogrande V (2001) Dysmorphic Syndromes and Constitutional Diseases of the Skeleton, vol I. Piccin Nuova Libaria s.p.a, Padova, pp 5\u20137"}],"container-title":["European Spine Journal"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00586-012-2518-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00586-012-2518-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00586-012-2518-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T03:26:55Z","timestamp":1559100415000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00586-012-2518-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,30]]},"references-count":18,"journal-issue":{"issue":"S3","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["2518"],"URL":"https:\/\/doi.org\/10.1007\/s00586-012-2518-2","relation":{},"ISSN":["0940-6719","1432-0932"],"issn-type":[{"value":"0940-6719","type":"print"},{"value":"1432-0932","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,30]]}}}