{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T01:40:45Z","timestamp":1791855645344,"version":"4.3.4"},"reference-count":8,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,5]]},"abstract":"<jats:p>Sorsby syndrome is a dominantly inherited combination of bilateral macular colobomas and apical dystrophy of the hands and feet (brachydactyly type B). We report on a further three affected members of the family originally described by Sorsby. Two of these have a single kidney, two have hearing loss, and one has a uterine anomaly.<\/jats:p>","DOI":"10.1136\/jmg.25.5.313","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"313-321","source":"Crossref","is-referenced-by-count":28,"title":["Sorsby syndrome: a report on further generations of the original family."],"prefix":"10.1136","volume":"25","author":[{"given":"E M","family":"Thompson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Baraitser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1988,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1136\/bjo.19.2.65","article-title":"Congenital coloboma of the macula, together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of the hands and feet","volume":"19","author":"Sorsby, A.","year":"1935","unstructured":"Sorsby A. Congenital coloboma of the macula, together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of the hands and feet. Br J Ophthalmol 1935;19:65-90.","journal-title":"Br J Ophthalmol"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1136\/bjo.53.5.346","article-title":"Macular coloboma and skeletal abnormality","volume":"53","author":"Phillips, C.I.; Griffiths, D.L.","year":"1969","unstructured":"Phillips CI, Griffiths DL. Macular coloboma and skeletal abnormality. Br J Ophthalmol 1969;53:346-9.","journal-title":"Br J Ophthalmol"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1002\/ajmg.1320050407","article-title":"Congenital macular colobomas and short-limbed skeletal dysplasia","volume":"5","author":"Smith, R.D.; Fineman, R.M.; Sillence, D.O.","year":"1980","unstructured":"Smith RD, Fineman RM, Sillence DO, et al. Congenital macular colobomas and short-limbed skeletal dysplasia. Am J Med Genet 1980;5:365-71.","journal-title":"Am J Med Genet"},{"key":"ref_4","first-page":"189","article-title":"Congenital contractural arachnodactyly and intraocular colobomas","volume":"5","author":"Bard, L.A.","year":"1979","unstructured":"Bard LA. Congenital contractural arachnodactyly and intraocular colobomas. Birth Defects 1979;XV(5B): 189-205.","journal-title":"Birth Defects"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1002\/ajmg.1320170406","article-title":"Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect","volume":"17","author":"Halal, F.; Homsy, M.; Perreault, G.","year":"1984","unstructured":"Halal F, Homsy M, Perreault G. Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. Am J Med Genet 1984;17:753-62.","journal-title":"Am J Med Genet"},{"key":"ref_6","article-title":"Mendelian inheritance in man","author":"McKusick, V.A.","year":"1986","unstructured":"McKusick VA. Mendelian inheritance in man. 7th ed. Baltimore, London: Johns Hopkins University Press, 1986.","edition":"7th ed"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1136\/jmg.16.1.36","article-title":"Classification and identification of inherited brachydactylies","volume":"16","author":"Fitch, N.","year":"1979","unstructured":"Fitch N. Classification and identification of inherited brachydactylies. J Med Genet 1979;16:36-44.","journal-title":"J Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1002\/ajmg.1320240114","article-title":"A new syndrome of severe upper limb hypoplasia and Mullerian duct anomalies","volume":"24","author":"Halal, F.","year":"1986","unstructured":"Halal F. A new syndrome of severe upper limb hypoplasia and Mullerian duct anomalies. Am J Med Genet 1986;24:119-26.","journal-title":"Am J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.5.313","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:04:09Z","timestamp":1760727849000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.5.313"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,5]]},"references-count":8,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1988,5,1]]},"published-print":{"date-parts":[[1988,5]]}},"alternative-id":["10.1136\/jmg.25.5.313"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.5.313","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,5]]}}}