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Severe myopia leading to blindness, cleft palate, or subnucous cleft, Pierre Robin anomaly, premature degenerative arthritis, or a family history of any of these indicates further evaluation.<\/jats:p>","DOI":"10.1136\/jmg.12.4.397","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"397-400","source":"Crossref","is-referenced-by-count":21,"title":["The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness."],"prefix":"10.1136","volume":"12","author":[{"given":"J G","family":"Hall","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Herrod","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1975,12,1]]},"reference":[{"issue":"2","key":"ref_1","first-page":"77","article-title":"The Stickler syndrome (heriditary arthroophthalmopathy)","volume":"11","author":"Herrmann, J.; France, T.; Spranger, J.; Opitz, J.","year":"1975","unstructured":"Herrmann, J., France, T., Spranger, J., and Opitz, J. 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Clefting syndromes associated with retinal detachment. American journal of Ophthalmology, 73, 517-530.","journal-title":"American journal of Ophthalmology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1056\/NEJM197203092861020","article-title":"The Stickler syndrome","volume":"286","author":"Opitz, J.M.; France, T.; Herrmann, J.; Spranger, J.W.","year":"1972","unstructured":"Opitz, J. M., France, T., Herrmann, J., and Spranger, J. W. (1972). The Stickler syndrome. (Letter.) New England journal of Medicine, 286, 546-547.","journal-title":"(Letter.) New England journal of Medicine"},{"key":"ref_5","first-page":"86","article-title":"Stickler syndrome in a pedigree of Pierre Robin syndrome","volume":"126","author":"Schreiner, R.L.; McAlister, W.H.; Marshall, R.E.; Shearer, W.T.","year":"1973","unstructured":"Schreiner, R. L., McAlister, W. H., Marshall, R. E., and Shearer, W. T. (1973). Stickler syndrome in a pedigree of Pierre Robin syndrome. Americanjournal of Diseases of Children, 126, 86-90.","journal-title":"Americanjournal of Diseases of Children"},{"key":"ref_6","first-page":"359","article-title":"Arthro-ophthalmopathia hereditaria","volume":"11","author":"Spranger, J.","year":"1968","unstructured":"Spranger, J. (1968). Arthro-ophthalmopathia hereditaria. Annales de Radiologie, 11, 359-364.","journal-title":"Annales de Radiologie"},{"key":"ref_7","series-title":"Proceedings of the Staff Meetings of the Mayo Clinic","first-page":"433","article-title":"Hereditary progressive arthro-ophthalmopathy","volume":"40","author":"Stickler, G.B.; Belau, P.G.; Farrell, F.J.; Jones, J.D.; Pugh, D.G.; Steinberg, A.G.; Ward, L.E.","year":"1965","unstructured":"Stickler, G. B., Belau, P. G., Farrell, F. J., Jones, J. D., Pugh, D. G., Steinberg, A. G., and Ward, L. E. (1965). Hereditary progressive arthro-ophthalmopathy. Proceedings of the Staff Meetings of the Mayo Clinic, 40, 433-455."},{"key":"ref_8","series-title":"Proceedings of the Stafl Meetings of the Mayo Clinics","first-page":"42","article-title":"Hereditary progressive arthro-ophthalmopathy. II. Additional observations on vertebral abnormalities, a hearing defect and a report of a similar case","author":"Stickler, G.B.; Pugh, D.G.","year":"1967","unstructured":"Stickler, G. B. and Pugh, D. G. (1967). Hereditary progressive arthro-ophthalmopathy. II. Additional observations on vertebral abnormalities, a hearing defect and a report of a similar case. Proceedings of the Stafl Meetings of the Mayo Clinics, 42,495-500."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.12.4.397","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:18:09Z","timestamp":1760721489000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.12.4.397"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,12]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1975,12,1]]},"published-print":{"date-parts":[[1975,12]]}},"alternative-id":["10.1136\/jmg.12.4.397"],"URL":"https:\/\/doi.org\/10.1136\/jmg.12.4.397","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1975,12]]}}}