{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:18:43Z","timestamp":1761823123740},"reference-count":12,"publisher":"Oxford University Press (OUP)","issue":"741","license":[{"start":{"date-parts":[[1987,7,1]],"date-time":"1987-07-01T00:00:00Z","timestamp":552096000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1987,7,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n               <jats:p>A patient with Noonan\u2019s syndrome and fundal colobomata in both eyes is described. To our knowledge, this is the first report of the association of colobomata with Noonan\u2019s syndrome. Although the patient had poor sight since early childhood and dyspnea on exertion as a teenager, the diagnosis of Noonan\u2019s syndrome was not made until early adulthood. We hope this report will encourage recognition of this syndrome and its implications at an earlier stage.<\/jats:p>","DOI":"10.1136\/pgmj.63.741.559","type":"journal-article","created":{"date-parts":[[2008,12,29]],"date-time":"2008-12-29T21:05:27Z","timestamp":1230584727000},"page":"559-561","source":"Crossref","is-referenced-by-count":13,"title":["Colobomata associated with Noonan\u2019s syndrome"],"prefix":"10.1093","volume":"63","author":[{"given":"L","family":"Kleanthous","sequence":"first","affiliation":[{"name":"University College Hospital , Gower Street, London WC1E 6JJ, London , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"D\u2019Cruz","sequence":"additional","affiliation":[{"name":"University College Hospital , Gower Street, London WC1E 6JJ, London , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Graham","sequence":"additional","affiliation":[{"name":"St Thomas\u2019 Hospital , London SE1 7EH , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Efthimiou","sequence":"additional","affiliation":[{"name":"University College Hospital , Gower Street, London WC1E 6JJ, London , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[1987,7,1]]},"reference":[{"issue":"373 -380","key":"ref_1","article-title":"Hypertelorism with Turner phenotype: A new syndrome with associated congenital heart disease","volume":"116","author":"Noonan, J.A.","unstructured":"Noonan, J.A. Hypertelorism with Turner phenotype: A new syndrome with associated congenital heart disease. Am J Dis Child 1961, 116: 373 -380.","journal-title":"Am J Dis Child"},{"issue":"63","key":"ref_2","first-page":"468","article-title":"Associated non-cardiac malformations in children with congenital heart disease","volume":"1963","author":"Noonan, J.A.; Ehmke, D.A.","unstructured":"Noonan, J.A. & Ehmke, D.A. Associated non-cardiac malformations in children with congenital heart disease. J Pediat 1963, 63: 468-469.","journal-title":"J Pediat"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1001\/jama.1971.03180300061024","article-title":"\"Turner phenotypes\" vs Noonan's syndrome","volume":"216","author":"Char, F.","year":"1971","unstructured":"Char, F. \"Turner phenotypes\" vs Noonan's syndrome. JAMA 1971, 216: 679-680.","journal-title":"JAMA"},{"issue":"23","key":"ref_4","first-page":"556","article-title":"A syndrome of infantilism, congenital webbed neck and cubitus valgus","volume":"1938","author":"Turner, H.H.","unstructured":"Turner, H.H. A syndrome of infantilism, congenital webbed neck and cubitus valgus. Endocrinology 1938,23: 556-574.","journal-title":"Endocrinology"},{"key":"ref_5","first-page":"778","article-title":"Noonan syndrome","author":"Summitt, R.L.","year":"1979","unstructured":"Summitt, R.L. Noonan syndrome. In Bergsma, D. (ed) Birth Defects Compendium. Macmillan Press, London, 1979, pp 778-779."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"955959","DOI":"10.1016\/0002-9394(72)90466-7","article-title":"Noonan's syndrome associated with ocular abnormalities","volume":"73","author":"Schwartz, D.E.","year":"1972","unstructured":"Schwartz, D.E. Noonan's syndrome associated with ocular abnormalities. Am J Ophthalmol 1972, 73: 955959.","journal-title":"Am J Ophthalmol"},{"issue":"76","key":"ref_7","first-page":"211","article-title":"Eye signs in Turner's syndrome","volume":"1966","author":"Lessell, S.; Forbes, A.","unstructured":"Lessell, S. & Forbes, A. Eye signs in Turner's syndrome. Arch Ophthalmol 1966, 76: 211-213.","journal-title":"Arch Ophthalmol"},{"issue":"91","key":"ref_8","first-page":"926","article-title":"Ocular findings in Turner's syndrome: A prospective study","volume":"1984","author":"Chrousos, G.A.; Ross, J.L.; Chrousos, G.","unstructured":"Chrousos, G.A., Ross, J.L., Chrousos, G. et al. Ocular findings in Turner's syndrome: A prospective study. Ophthalmology 1984, 91: 926-928.","journal-title":"Ophthalmology"},{"issue":"1","key":"ref_9","first-page":"55","article-title":"Congenital ocular defects","volume":"1931","author":"von Ammon, A.","unstructured":"von Ammon, A. Congenital ocular defects. Ophthalmol 1931, 1: 55.","journal-title":"Ophthalmol"},{"key":"ref_10","first-page":"465","article-title":"Typical coloboma of the fundus","volume":"1964","author":"Duke-Elder, S.","unstructured":"Duke-Elder, S. Typical coloboma of the fundus. In DukeElder, S. (ed) System ofOphthalmology. Henry Kimpton, London 1964, pp465-469.","journal-title":"Henry Kimpton, London; System ofOphthalmology"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/0039-6257(81)90092-8","volume":"25","author":"Pagon, R.A.Ocular coloboma","year":"1981","unstructured":"Pagon, R.A. Ocular coloboma. Surv Ophthal 1981, 25: 223-236.","journal-title":"Surv Ophthal"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"122","DOI":"10.3928\/0191-3913-19790301-10","article-title":"Colobomatous microphthalmia, heart disease, hearing loss and mental retardation - A syndrome","volume":"16","author":"Hittner, H.M.; Hirsch, N.J.; Kren, G.M.; Rudolph, A.S.","year":"1979","unstructured":"Hittner, H.M., Hirsch, N.J., Kren, G.M. & Rudolph, A.S. Colobomatous microphthalmia, heart disease, hearing loss and mental retardation - A syndrome. J Pediatr Ophthalmol Strabismus 1979, 16: 122-128.","journal-title":"J Pediatr Ophthalmol Strabismus"}],"container-title":["Postgraduate Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/63\/741\/559\/50080178\/postgradmedj-63-559.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/63\/741\/559\/50080178\/postgradmedj-63-559.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T05:26:20Z","timestamp":1683264380000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/pmj\/article\/63\/741\/559\/7047414"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,7,1]]},"references-count":12,"journal-issue":{"issue":"741","published-online":{"date-parts":[[1987,7,1]]},"published-print":{"date-parts":[[1987,7,1]]}},"URL":"https:\/\/doi.org\/10.1136\/pgmj.63.741.559","relation":{},"ISSN":["0032-5473","1469-0756"],"issn-type":[{"value":"0032-5473","type":"print"},{"value":"1469-0756","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[1987,7]]},"published":{"date-parts":[[1987,7,1]]}}}