{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T05:45:08Z","timestamp":1741153508517,"version":"3.38.0"},"reference-count":23,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,12]]},"DOI":"10.1097\/bpb.0b013e328311d357","type":"journal-article","created":{"date-parts":[[2011,3,30]],"date-time":"2011-03-30T07:26:12Z","timestamp":1301469972000},"page":"323-327","source":"Crossref","is-referenced-by-count":3,"title":["Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review"],"prefix":"10.1097","volume":"17","author":[{"given":"Jerzy","family":"Sulko","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazimierz","family":"Kozlowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-10-20210128","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1002\/art.1780230914","article-title":"The benign hypermobility joint syndrome","volume":"23","author":"Jessee","year":"1980","journal-title":"Arthritis Rheumat"},{"key":"R2-10-20210128","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1136\/ard.40.6.541","article-title":"A clinical and echocardiographic study of patients with the hypermobility syndrome","volume":"40","author":"Grahame","year":"1981","journal-title":"Ann Rheum Dis"},{"key":"R3-10-20210128","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1302\/0301-620X.52B1.145","article-title":"Dominant inheritance in familial generalised articular hypermobility","volume":"52B","author":"Beighton","year":"1970","journal-title":"J Bone Joint Surg"},{"key":"R4-10-20210128","first-page":"99","article-title":"McKusick's Heritable Disorders of Connective Tissue","author":"Beighton","year":"1993"},{"key":"R5-10-20210128","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1097\/00003086-199301000-00037","article-title":"A survey of patients with Ehlers-Danlos syndrome","volume":"286","author":"Ainsworth","year":"1993","journal-title":"Clin Orthop Rel Research"},{"key":"R6-10-20210128","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/BF00580591","article-title":"Spondylo-epi-metaphyseal dysplasia with joint laxity and severe progressive kyphoscoliosis","volume":"5","author":"Beighton","year":"1980","journal-title":"Skel Radiol"},{"key":"R7-10-20210128","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1136\/jmg.35.7.566","article-title":"A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations","volume":"35","author":"Hall C","year":"1998","journal-title":"J Med Genet"},{"key":"R8-10-20210128","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1136\/jmg.39.9.666","article-title":"Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance","volume":"39","author":"Hall","year":"2002","journal-title":"J Med Genet"},{"year":"2002","author":"Spranger","article-title":"Bone dysplasias. An atlas of genetic disorders of skeletal development. 2nd ed","key":"R9-10-20210128"},{"key":"R10-10-20210128","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1097\/00019605-200501000-00003","article-title":"A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)","volume":"14","author":"Rossi","year":"2005","journal-title":"Clin Dysmorphol"},{"key":"R11-10-20210128","first-page":"267","article-title":"The sponastrime dysplasia: familial short-limb dwarfism with saddle nose, spinal alteration s and metaphyseal striation","volume":"38","author":"Fanconi","year":"1983","journal-title":"Helv Paediat Acta"},{"key":"R12-10-20210128","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1007\/s002470050157","article-title":"Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases","volume":"27","author":"Langer","year":"1997","journal-title":"Pediatr Radiol"},{"key":"R13-10-20210128","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.31483","article-title":"Nosology and classification of genetic skeletal disorders: 2006 revision","volume":"143A","author":"Superti-Furga","year":"2007","journal-title":"Am J Med Genet A"},{"key":"R14-10-20210128","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1093\/rheumatology\/12.1.47","article-title":"Recessive inheritance of generalised joint hypermobility","volume":"12","author":"Horan","year":"1973","journal-title":"Rheumatol Rehab"},{"key":"R15-10-20210128","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1002\/ajmg.1320060306","article-title":"Familial joint instability syndrome","volume":"6","author":"Horton","year":"1980","journal-title":"Am J Med Genet"},{"key":"R16-10-20210128","first-page":"142","article-title":"Cutis laxa, retarded development and joint hypermobility syndrome","volume":"1","author":"Goldblatt","year":"1998","journal-title":"Dysmorphol Clin Gen"},{"key":"R17-10-20210128","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1002\/(SICI)1096-8628(19990917)86:3<245::AID-AJMG10>3.0.CO;2-5","article-title":"Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States","volume":"86","author":"Smith","year":"1999","journal-title":"Am J Med Genet"},{"key":"R18-10-20210128","first-page":"15","article-title":"Spondyloepimetaphyseal dysplasia, Leptodactylic type: variability, familial cases and differential duagnosis","volume":"25","author":"Spranger","year":"2006","journal-title":"Proc Greenwood Genet Center"},{"key":"R19-10-20210128","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1007\/BF02012115","article-title":"Sponastrime dysplasia: report on a male patient","volume":"24","author":"Camera","year":"1994","journal-title":"Pediatr Radiol"},{"key":"R20-10-20210128","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<429::AID-AJMG8>3.0.CO;2-F","article-title":"Sponastrime dysplasia: report on a female patients with severe skeletal changes","volume":"66","author":"Masuno","year":"1996","journal-title":"Am J Med Genet"},{"key":"R21-10-20210128","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1002\/ajmg.a.20262","article-title":"Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature","volume":"122A","author":"Megarbane","year":"2003","journal-title":"Am J Med Genet"},{"key":"R22-10-20210128","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<288::AID-AJMG22>3.0.CO;2-A","article-title":"Another observation of Langer-type sponastrime dysplasia variant","volume":"80","author":"Nishimura","year":"1998","journal-title":"Am J Med Genet"},{"key":"R23-10-20210128","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/ajmg.a.10927","article-title":"Spondyloepimetaphyseal dysplasia with joint laxity leptodactyly form: clinical course and phenotypic variations in four patients","volume":"117","author":"Nishimura","year":"2003","journal-title":"Am J Med Genet"}],"container-title":["Journal of Pediatric Orthopaedics B"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/BPB.0b013e328311d357","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,4]],"date-time":"2025-03-04T19:00:01Z","timestamp":1741114801000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/01202412-200812000-00010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12]]},"references-count":23,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2008]]}},"URL":"https:\/\/doi.org\/10.1097\/bpb.0b013e328311d357","relation":{},"ISSN":["1060-152X"],"issn-type":[{"type":"print","value":"1060-152X"}],"subject":[],"published":{"date-parts":[[2008,12]]}}}