{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:21:40Z","timestamp":1760833300295,"version":"build-2065373602"},"reference-count":16,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,5]]},"abstract":"<jats:p>We report on a probably new form of spondyloepimetaphyseal dysplasia (SEMD) with an X linked inheritance pattern. Eight males were affected in the same family. We were able to examine three adult patients and we studied the skeletal radiological aspect of one of these patients at 2 years 6 months and at 9 years of age. The main clinical features are severe short trunked dwarfism, brachydactyly, normal facies, and normal intelligence. Radiologically, the diaphyses of all the long bones are short and broad. The epiphyses of the distal portion of the femora and those of the proximal and distal portions of the tibia are embedded in their metaphyses and there is marked narrowing of the intercondylar groove. There is moderate platyspondyly. Several vertebrae show an anterior tongue in infancy and severe irregularities of the upper and lower surfaces are present in adulthood. The 11th or 12th thoracic vertebra is wedge shaped. The pelvis is narrow. The distal ulnae and fibulae are disproportionately long. The hands show radial deviation and brachydactyly is present in the hands and feet. This X linked SEMD was not detectable at birth.<\/jats:p>","DOI":"10.1136\/jmg.31.5.371","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"371-376","source":"Crossref","is-referenced-by-count":11,"title":["New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family."],"prefix":"10.1136","volume":"31","author":[{"given":"G","family":"Camera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Stella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Camera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1111\/j.1399-0004.1984.tb01065.x","article-title":"The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity","volume":"26","author":"Beighton, P.; Gericke, G.; Kozlowski, K.; Grobler, L.","year":"1984","unstructured":"Beighton P, Gericke G, Kozlowski K, Grobler L. The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. Clin Genet 1984;26:308-17.","journal-title":"Clin Genet"},{"key":"ref_2","first-page":"319","article-title":"L'osteochondrodysplasie spondylo-epiphyso-metaphysaire type Irapa: nouveau nanisme avec rachis and metatarsien courts","volume":"5","author":"Arias, S.; Mota, M.; Pinto-Cisternas, J.","year":"1976","unstructured":"Arias S, Mota M, Pinto-Cisternas J. L'osteochondrodysplasie spondylo-epiphyso-metaphysaire type Irapa: nouveau nanisme avec rachis and metatarsien courts. Nouv Presse Med 1976;5:319-23.","journal-title":"Nouv Presse Med"},{"key":"ref_3","first-page":"17988","article-title":"Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome","volume":"5","author":"Hernandez, A.; Ramirez, M.L.; Nazara, Z.; Ocampo, R.; Ibarra, B.; Cantu, J.M.","year":"1980","unstructured":"Hernandez A, Ramirez ML, Nazara Z, Ocampo R, Ibarra B, Cantu JM. Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome. Am J Med Genet 1980;5: 17988.","journal-title":"Am J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/ajmg.1320130304","article-title":"Spondylometepiphyseal dysplasia, Strudwick type","volume":"13","author":"Anderson, C.E.; Sillence, D.O.; Lachman, R.S.","year":"1982","unstructured":"Anderson CE, Sillence DO, Lachman RS, et al. Spondylometepiphyseal dysplasia, Strudwick type. Am J Med Genet 1982;13:243-56.","journal-title":"Am J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1002\/ajmg.1320130303","article-title":"Genetic heterogeneity of spondyloepiphyseal dysplasia congenita?","volume":"13","author":"Spranger, J.W.; Maroteaux, P.","year":"1982","unstructured":"Spranger JW, Maroteaux P. Genetic heterogeneity of spondyloepiphyseal dysplasia congenita? (Editorial comment.) Am J Med Genet 1982;13:241-2.","journal-title":"(Editorial comment.) Am J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/ajmg.1320360308","article-title":"Hypotricosis with spondyloepimetaphyseal dysplasia in three generation: a new autosomal dominant syndrome","volume":"36","author":"Whyte, M.P.; Petersen, D.J.; McAlister, W.H.","year":"1990","unstructured":"Whyte MP, Petersen DJ, McAlister WH. Hypotricosis with spondyloepimetaphyseal dysplasia in three generation: a new autosomal dominant syndrome. Am J Med Genet 1990;36:288-91.","journal-title":"Am J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1007\/BF02010826","article-title":"Spondylo-epiphyso-metaphyseal dysplasia: an atypical variant","volume":"21","author":"Vichi, G.F.; Salti, R.; Galluzzi, F.; Corti, S.; Carbonai, R.","year":"1990","unstructured":"Vichi GF, Salti R, Galluzzi F, Corti S, Carbonai R. Spondylo-epiphyso-metaphyseal dysplasia: an atypical variant. Pediatr Radiol 1990;21:78-9.","journal-title":"Pediatr Radiol"},{"key":"ref_8","first-page":"360","article-title":"A distinctive type of spondylometaepiphyseal (SMED) in two brothers and a third unrelated male","volume":"4","author":"Maloney, F.P.","year":"1969","unstructured":"Maloney FP. A distinctive type of spondylometaepiphyseal (SMED) in two brothers and a third unrelated male. Birth Defects 1969;V(4):360-7.","journal-title":"Birth Defects"},{"key":"ref_9","first-page":"383","article-title":"Les formes pseudo-achondroplastiques des dysplasies spondylo-ephysaires","volume":"67","author":"Maroteaux, P.; Lamy, M.","year":"1959","unstructured":"Maroteaux P, Lamy M. Les formes pseudo-achondroplastiques des dysplasies spondylo-ephysaires. Presse Med 1959;67:383-6.","journal-title":"Presse Med"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1136\/jmg.23.5.425","article-title":"Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types","volume":"23","author":"Wynne-Davies, R.; Hall, C.M.; Young, I.D.","year":"1986","unstructured":"Wynne-Davies R, Hall CM, Young ID. Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds). 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Clin Genet 1991;39:362-9.","journal-title":"Clin Genet"},{"key":"ref_15","first-page":"106","article-title":"Su un caso di disostosi periferica","volume":"18","author":"Bellini, F.; Bardare, M.","year":"1966","unstructured":"Bellini F, Bardare M. Su un caso di disostosi periferica. Minerva Pediatr 1966;18:106-10.","journal-title":"Minerva Pediatr"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/BF00347374","article-title":"Metaphyseal chondrodysplasia with ectodermal dysplasia","volume":"7","author":"Jequier, S.; Bellini, F.; Mackenzie, D.A.","year":"1981","unstructured":"Jequier S, Bellini F, Mackenzie DA. Metaphyseal chondrodysplasia with ectodermal dysplasia. Skeletal Radiol 1981;7:107-12.","journal-title":"Skeletal Radiol"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.5.371","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:11:03Z","timestamp":1760775063000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.5.371"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,5]]},"references-count":16,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1994,5,1]]},"published-print":{"date-parts":[[1994,5]]}},"alternative-id":["10.1136\/jmg.31.5.371"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.5.371","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1994,5]]}}}