{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T17:08:55Z","timestamp":1770743335510,"version":"3.49.0"},"reference-count":9,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,5]]},"abstract":"<jats:p>Three children have been reported with a combination of iris coloboma, ptosis, hypertelorism, and growth and mental retardation with possible autosomal recessive inheritance. We report a single case whose clinical features encompass this syndrome and Noonan syndrome, and discuss the possible interpretations of this complex phenotype.<\/jats:p>","DOI":"10.1136\/jmg.30.5.425","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"425-426","source":"Crossref","is-referenced-by-count":18,"title":["Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?"],"prefix":"10.1136","volume":"30","author":[{"given":"A","family":"Verloes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,5,1]]},"reference":[{"key":"ref_1","article-title":"Syndromes of the head and neck","author":"Gorlin, R.J.; Cohen, M.M.; Levin, L.S.","year":"1990","unstructured":"Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck. New York: Oxford University Press, 1990."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1136\/jmg.26.1.69","article-title":"Iris coloboma, ptosis, hypertelorism, and mental retardation","volume":"26","author":"Hall, B.D.","year":"1989","unstructured":"Hall BD. Iris coloboma, ptosis, hypertelorism, and mental retardation. J Med Genet 1989;26:69.","journal-title":"J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/ajmg.1320100415","article-title":"Frontofacionasal dysplasia - a new autosomal recessive syndrome","volume":"10","author":"Gollop, T.R.","year":"1981","unstructured":"Gollop TR. Frontofacionasal dysplasia - a new autosomal recessive syndrome. Am J Med Genet 1981;10:409-12.","journal-title":"Am J Med Genet"},{"key":"ref_4","first-page":"450","article-title":"The genetics of hand malformations","volume":"3","author":"Temtamy, S.; McKusick, V.","year":"1978","unstructured":"Temtamy S, McKusick V. The genetics of hand malformations. Birth Defects 1978;XIV(3):450-4.","journal-title":"Birth Defects"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/ajmg.1320150217","article-title":"New syndrome of congenital ichthyosis with neurologic abnormalities","volume":"15","author":"Zunich, J.; Kaye, C.I.","year":"1983","unstructured":"Zunich J, Kaye CI. New syndrome of congenital ichthyosis with neurologic abnormalities. Am J Med Genet 1983; 15:331-3.","journal-title":"Am J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/ajmg.1320260115","article-title":"Dominant inheritance of a syndrome similar to Rubinstein-Taybi","volume":"26","author":"Cotsirilos, P.; Taylor, J.C.; Matalon, R.","year":"1987","unstructured":"Cotsirilos P, Taylor JC, Matalon R. Dominant inheritance of a syndrome similar to Rubinstein-Taybi. Am 7 Med Genet 1987;26:85-93.","journal-title":"Am 7 Med Genet"},{"key":"ref_7","first-page":"600","article-title":"A syndrome of congenital thrombocytopenia with multiple malformations and neurologic dysfunction","volume-title":"I Pediatr","volume":"102","author":"Gardner, R.J.M.; Morrison, P.S.; Abbott, G.D.","year":"1983","unstructured":"Gardner RJM, Morrison PS, Abbott GD. A syndrome of congenital thrombocytopenia with multiple malformations and neurologic dysfunction. I Pediatr 1983;102:600-2."},{"issue":"1","key":"ref_8","first-page":"19","article-title":"A new syndrome with ptosis, coloboma and mental retardation","volume":"3","author":"B, Le Marec; S, Odent; M, Urvoy","year":"1992","unstructured":"Le Marec B, Odent S, Urvoy M. A new syndrome with ptosis, coloboma and mental retardation. Genet Counsel 1992;3:1 19-20.","journal-title":"Genet Counsel"},{"key":"ref_9","first-page":"41","article-title":"Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome..7 Med","volume":"25","author":"Baraitser, M.; Winter, R.M.","year":"1988","unstructured":"Baraitser M, Winter RM. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome..7 Med Genet 1988;25:41-3.","journal-title":"Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.5.425","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:00:28Z","timestamp":1760774428000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.5.425"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,5]]},"references-count":9,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1993,5,1]]},"published-print":{"date-parts":[[1993,5]]}},"alternative-id":["10.1136\/jmg.30.5.425"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.5.425","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,5]]}}}