{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T19:16:25Z","timestamp":1780773385285,"version":"3.54.1"},"reference-count":8,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,12]]},"abstract":"<jats:p>Larsen syndrome is characterised by congenital anterior dislocation of the knees, associated with other joint dislocations, and a characteristic facies. Autosomal recessive and dominant inheritance have been proposed. A brother and a sister with consanguineous parents, suggesting autosomal recessive inheritance, were found to have the typical features of Larsen syndrome. In addition, they had severe cardiac manifestations, never reported before in familial cases of the syndrome. We suggest that the recessive form is probably more severe than the dominant form because of the frequent presence of concomitant cardiac anomalies.<\/jats:p>","DOI":"10.1136\/jmg.20.6.422","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"422-424","source":"Crossref","is-referenced-by-count":23,"title":["Severe cardiac anomalies in sibs with Larsen syndrome."],"prefix":"10.1136","volume":"20","author":[{"given":"P","family":"Strisciuglio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Sebastio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Andria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Maione","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Raia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1983,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/S0022-3476(50)80268-8","article-title":"Multiple congenital dislocations associated with characteristic facial abnormality","volume":"37","author":"Larsen, J.; Schottstaedt, E.F.; Bost, F.C.","year":"1950","unstructured":"Larsen J, Schottstaedt EF, Bost FC. Multiple congenital dislocations associated with characteristic facial abnormality. JPediatr 1950;37:574-81.","journal-title":"JPediatr"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1016\/S0022-3476(75)80227-7","article-title":"Striking aortic root dilatation in a patient with Larsen syndrome","volume":"86","author":"Swensonn, R.E.; Linnebur, A.C.; Paster, S.B.","year":"1975","unstructured":"Swensonn RE, Linnebur AC, Paster SB. Striking aortic root dilatation in a patient with Larsen syndrome. J Pediatr 1975;86:914-5.","journal-title":"J Pediatr"},{"key":"ref_3","first-page":"281","article-title":"Congenital dislocation of the knees","volume":"11","author":"McFarland, B.L.","year":"1929","unstructured":"McFarland BL. Congenital dislocation of the knees. J Bone Joint Surg 1929;11:281-5.","journal-title":"J Bone Joint Surg"},{"key":"ref_4","first-page":"\"53","article-title":"Larsen's syndrome: three cases with multiple congenital joint dislocations and distinctive facies","volume":"14","author":"Robertson, F.W.; Kozlowski, K.; Middleton, R.W.","year":"1975","unstructured":"Robertson FW, Kozlowski K, Middleton RW. Larsen's syndrome: three cases with multiple congenital joint dislocations and distinctive facies. Clin Genet 1975;14: 53-60. 5Faur6 C, Lascaux JP, Montagne JP. Le syndrome de Larsen. A propos de trois observations nouvelles. Ann Radiol (Paris) 1976;19:629-36.","journal-title":"Clin Genet; Le syndrome de Larsen. A propos de trois observations nouvelles"},{"key":"ref_5","first-page":"35","article-title":"Le syndrome de Larsen. Aspects cliniques et g6n6tiques","volume":"39","author":"Renault, F.; Arthuis, M.; Rethor6, M.O.; Lafourcade, J.","year":"1982","unstructured":"Renault F, Arthuis M, Rethor6 MO, Lafourcade J. Le syndrome de Larsen. Aspects cliniques et g6n6tiques. Arch FrPediatr 1982;39:35-8.","journal-title":"Arch FrPediatr"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1111\/j.1651-2227.1977.tb07964.x","article-title":"The Larsen syndrome and glial proliferation in the brain","volume":"66","author":"Henrikson, P.; Ivarsson, S.; Theander, G.","year":"1977","unstructured":"Henrikson P, Ivarsson S, Theander G. The Larsen syndrome and glial proliferation in the brain. Acta Paediatr Scand 1977;66:653-7.","journal-title":"Acta Paediatr Scand"},{"key":"ref_7","first-page":"828","article-title":"Multiple joint dislocations and peculiar facies","volume":"126","author":"Lee, P.A.","year":"1973","unstructured":"Lee PA. Multiple joint dislocations and peculiar facies. Am J Dis Child 1973;126:828-30.","journal-title":"Am J Dis Child"},{"key":"ref_8","first-page":"566","article-title":"Mendelian inheritance in man. Catalog of autosomal dominant, autosomal recessive and X-linked phenotypes","author":"McKusick, V.","year":"1978","unstructured":"McKusick V. Mendelian inheritance in man. Catalog of autosomal dominant, autosomal recessive and X-linked phenotypes. 5th ed. Baltimore: Johns Hopkins University Press, 1978:566-7.","edition":"5th ed"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.20.6.422","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:35:37Z","timestamp":1760772937000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.20.6.422"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,12]]},"references-count":8,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1983,12,1]]},"published-print":{"date-parts":[[1983,12]]}},"alternative-id":["10.1136\/jmg.20.6.422"],"URL":"https:\/\/doi.org\/10.1136\/jmg.20.6.422","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,12]]}}}