{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:13:45Z","timestamp":1792167225411,"version":"4.4.0"},"reference-count":33,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,10]]},"abstract":"<jats:p>X linked spondyloepiphyseal dysplasia (SEDT) is a rare disorder characterised by disproportionate short stature and degenerative changes in the spine and hips. We report a large kindred with 11 affected males and 17 obligate carrier females. We examined clinically and radiographically the seven living affected males and obtained detailed historical information on the four dead. The natural history was characterised by normal growth until late childhood. Decreased growth velocity was the earliest detectable abnormality. In adulthood, four subjects required hip replacements but disability was minimal. Clinical examinations showed a characteristic habitus with short stature (&gt; 2 SD below the mean) and a decreased upper segment to lower segment ratio (&gt; 1 SD below the mean) in all affected subjects. Also noted were scoliosis (6\/7), and decreased range of hip rotation (6\/7), and decreased range of movement of the lumbar spine (4\/7). Radiographic evaluations were available on nine subjects. Radiographic changes were evident in two patients in childhood; findings in adulthood included narrow disc spaces (8\/9), platyspondyly (7\/9), the characteristic central and posterior hump of the vertebral bodies (6\/9), bony spurs (7\/ 8), and pelvic abnormalities (7\/9). We also systematically evaluated eight obligate carrier females. They could not be distinguished from the general population on clinical and radiographic findings. Linkage analysis showed significant linkage with markers on Xp22, as previously reported. A recombinant event between DXS43 and DXS207 places the locus distal to DXS43.<\/jats:p>","DOI":"10.1136\/jmg.33.10.823","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"823-828","source":"Crossref","is-referenced-by-count":30,"title":["X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred."],"prefix":"10.1136","volume":"33","author":[{"given":"J J","family":"MacKenzie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Fitzpatrick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Babyn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G B","family":"Ferrero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Ballabio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Billingsley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D E","family":"Bulman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Strasberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P N","family":"Ray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1302\/0301-620X.67B1.3155744","article-title":"The prevalence of skeletal dysplasias: an estimate of their minimum frequency and the number of patients requiring orthopaedic care","volume":"67","author":"Wynne-Davies, R.; Gormley, J.","year":"1985","unstructured":"Wynne-Davies R, Gormley J. The prevalence of skeletal dysplasias: an estimate of their minimum frequency and the number of patients requiring orthopaedic care. J Bone Joint Surg 1985;67:133-7.","journal-title":"J Bone Joint Surg"},{"key":"ref_2","first-page":"48","article-title":"X-linked spondyloepiphyseal dysplasia tarda (SDT)","volume":"V:","author":"Bannerman, R.M.","year":"1969","unstructured":"Bannerman RM. X-linked spondyloepiphyseal dysplasia tarda (SDT). Birth Defects 1969;V:48-51.","journal-title":"Birth Defects"},{"key":"ref_3","first-page":"291","article-title":"X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data. 3rMed Genet","volume":"8","author":"Bannerman, R.M.; Ingall, G.B.; Mohn, J.F.","year":"1971","unstructured":"Bannerman RM, Ingall GB, Mohn JF. X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data. 3rMed Genet 1971;8:291-301."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1148\/82.5.833","article-title":"Spondyloepiphyseal dysplasia tarda: hereditary chondrodysplasia with characteristic vertebral configuration in the adult","volume":"82","author":"LO, Jr, Langer","year":"1964","unstructured":"Langer LO Jr. Spondyloepiphyseal dysplasia tarda: hereditary chondrodysplasia with characteristic vertebral configuration in the adult. Radiology 1964;82:833-9.","journal-title":"Radiology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1016\/S0140-6736(60)91101-6","article-title":"An unusual form of familial osteodystrophy","volume":"i:","author":"Barber, H.S.","year":"1960","unstructured":"Barber HS. An unusual form of familial osteodystrophy. 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Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome. Hum Genet 1988;81:61-3.","journal-title":"Hum Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1006\/geno.1993.1431","article-title":"The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DSX92","volume":"18","author":"Heuertz, S.; Nelen, M.; Wilkie, A.O.M.","year":"1993","unstructured":"Heuertz S, Nelen M, Wilkie AOM, et al. The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DSX92. Genomics 1993;18:100-4.","journal-title":"Genomics"},{"issue":"3","key":"ref_13","first-page":"188","article-title":"Refinement of the localization of the gene responsible for spondylo epiphyseal dysplasia in Xp22","volume":"55","author":"Hors-Cayla, M.C.; Heuertz, S.; Smahi, A.","year":"1994","unstructured":"Hors-Cayla MC, Heuertz S, Smahi A, et al. Refinement of the localization of the gene responsible for spondylo epiphyseal dysplasia in Xp22. Am J Hum Genet 1994; 55(suppl 3):A188.","journal-title":"Am J Hum Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/BF00191797","article-title":"Genetic mapping of Xp22.12-p22.31 with a refined localization for spondyloephiphyseal dysplasia (SEDL)","volume":"96","author":"Heuertz, S.; Smaki, A.; Wilkie, A.O.M.","year":"1995","unstructured":"Heuertz S, Smaki A, Wilkie AOM, et al. Genetic mapping of Xp22.12-p22.31 with a refined localization for spondyloephiphyseal dysplasia (SEDL). Hum Genet 1995;96: 407-10.","journal-title":"Hum Genet"},{"key":"ref_15","first-page":"153","article-title":"Sample from paraffin-embedded tissue","volume-title":"protocols: a guide to methods and applications","author":"Wright, D.K.; Manos, M.M.","year":"1990","unstructured":"Wright DK, Manos MM. Sample from paraffin-embedded tissue. 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Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet 1985;37:235-49.","journal-title":"Am J Hum Genet"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/ng0694supp-246","article-title":"The 1993-94 Genethon human genetic linkage map","volume":"7","author":"Gyapay, G.; Morissette, J.; Vignal, A.","year":"1994","unstructured":"Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994; 7(suppl):246-339.","journal-title":"Nat Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1093\/hmg\/3.6.1029","article-title":"Dinucleotide repeat polymorphisms at the DXS85, DXS16 and DXS43 loci","volume":"3","author":"Chang, Y.P.C.; Smith, K.D.; Dover, G.J.","year":"1994","unstructured":"Chang YPC, Smith KD, Dover GJ. Dinucleotide repeat polymorphisms at the DXS85, DXS16 and DXS43 loci. 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Clin Exp Rheumatol 1992;10: 411-4."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.10.823","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:14:06Z","timestamp":1760771646000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.10.823"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,10]]},"references-count":33,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1996,10,1]]},"published-print":{"date-parts":[[1996,10]]}},"alternative-id":["10.1136\/jmg.33.10.823"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.10.823","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,10]]}}}