{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:10:07Z","timestamp":1760764207408,"version":"build-2065373602"},"reference-count":4,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,10]]},"abstract":"<jats:p>A probable autosomal recessive mode of inheritance is described in a family with two affected sisters. The sisters showed the typical picture of Marfan syndrome and were of normal intelligence. Both parents and all four grandparents were personally examined and found to be normal. Homocystinuria was ruled out on repeated examinations. This family suggests genetic heterogeneity in Marfan syndrome and that in some rare families the mode of inheritance may be autosomal recessive.<\/jats:p>","DOI":"10.1136\/jmg.14.5.359","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"359-361","source":"Crossref","is-referenced-by-count":5,"title":["Probable autosomal recessive Marfan syndrome."],"prefix":"10.1136","volume":"14","author":[{"given":"K","family":"Fried","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Krakowsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,10,1]]},"reference":[{"key":"ref_1","article-title":"factor cannot be ruled out, but the absence of a significant amount of consanguinity in the parents of affected persons suggests that this is not often true'. The proof that a sporadic case is the result of a fresh dominant mutation is usually in the next generation when an affected offspring","volume-title":"The finding of two affected sisters with normal parents could be explained by non-penetrance of the","year":"1974","unstructured":"factor cannot be ruled out, but the absence of a significant amount of consanguinity in the parents of affected persons suggests that this is not often true'. The proof that a sporadic case is the result of a fresh dominant mutation is usually in the next generation when an affected offspring is born (Fried and Mundel, 1974). The finding of two affected sisters with normal parents could be explained by non-penetrance of the"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1136\/jmg.11.2.141","article-title":"Polysyndactyly and Marfan's syndrome","volume":"11","author":"Fried, K.; Mundel, G.","year":"1974","unstructured":"Fried, K., and Mundel, G. (1974). Polysyndactyly and Marfan's syndrome. Journal of Medical Genetics, 11, 141-144.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1001\/archopht.1949.00900040284002","article-title":"Inheritance of arachnodactyly, ectopia lentis and other congenital anomalies (Marfan's syndrome) in the E. family","volume":"41","author":"Lutman, F.C.; Neel, J.V.","year":"1949","unstructured":"Lutman, F. C., and Neel, J. V. (1949). Inheritance of arachnodactyly, ectopia lentis and other congenital anomalies (Marfan's syndrome) in the E. family. Archives of Ophthalmology, 41, 276-305.","journal-title":"Archives of Ophthalmology"},{"key":"ref_4","article-title":"Disorders of Connective Tissue","author":"McKusick, V.A.","year":"1972","unstructured":"McKusick, V. A. (1972). Disorders of Connective Tissue, 4th ed. C. V. Mosby, St. Louis.","edition":"4th ed"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.5.359","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:54:51Z","timestamp":1760763291000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.5.359"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,10]]},"references-count":4,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1977,10,1]]},"published-print":{"date-parts":[[1977,10]]}},"alternative-id":["10.1136\/jmg.14.5.359"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.5.359","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1977,10]]}}}