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Three previously unreported problems present in this case were choanal atresia, pituitary dysplasia, and vertebral anomalies; these may well be component manifestations of the syndrome and not sporadic occurrences in our patient. Of particular clinical importance were the hypoglycemia and the hypoglucocorticism secondary to the pituitary dysplasia.<\/jats:p>","DOI":"10.1002\/ajmg.1320080404","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:33:48Z","timestamp":1118514828000},"page":"389-393","source":"Crossref","is-referenced-by-count":15,"title":["Kaufman syndrome (hydrometrocolpos, polydactyly, and congenital heart disease) with pituitary dysplasia, choanal atresia, and vertebral anomalies"],"prefix":"10.1002","volume":"8","author":[{"given":"John C.","family":"Knowles","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ira K.","family":"Brandt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilyn J.","family":"Bull","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","series-title":"Birth Defects: Original Article Series","first-page":"85","volume-title":"The Cardiovascular System","author":"Kaufman RL","year":"1972"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1964.03070110015003"},{"key":"e_1_2_1_4_2","first-page":"538","article-title":"Hydrometrocolpos of the newborn","volume":"58","author":"Nott A","year":"1959","journal-title":"Gynecol Obstet (Paris)"},{"key":"e_1_2_1_5_2","first-page":"179","article-title":"Hematometrocolpos in newborn","volume":"73","author":"Campbell JS","year":"1962","journal-title":"Arch Pathol"},{"key":"e_1_2_1_6_2","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1542\/peds.47.1.138","article-title":"Hydrometrocolpos and polydactyly","volume":"47","author":"Dungy CI","year":"1971","journal-title":"Pedeatrics"},{"key":"e_1_2_1_7_2","first-page":"368","article-title":"Type II syndactyly","volume":"20","author":"Cross HE","year":"1968","journal-title":"Amer J Hum Gen"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1962.02080020707010"},{"key":"e_1_2_1_9_2","first-page":"175","article-title":"Hidrometrokolpos novordencita","volume":"3","author":"Stojimirovic I","year":"1956","journal-title":"Acta Chir Iugoslavia"},{"key":"e_1_2_1_10_2","unstructured":"HallJG PallisterPD ClarrenSK BeckwithJB WiglesworthFW FraserFC ChoS BenkePJ ReedSD: Congenital hypothalamic hamartoblastoma hypopituitarism imperforate anus and postaxial polydactyly \u2010 A new syndrome?Am J Med Genet in press."},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80513-2"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(64)90066-3"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80155-9"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.118.1.1"},{"key":"e_1_2_1_15_2","unstructured":"HallJG PallisterPD BeckwithB ClarrenSK WiglesworthFW FraserFC:Imperforate anus postaxial polydactyly and hypothalamic tumor with secondary hypopituitarism \u2010 A new syndrome?Proceedings of the 1979 Birth Defects Conference Chicago 1979 p99."},{"key":"e_1_2_1_16_2","first-page":"1068","volume-title":"Birth Defects Compendium","author":"Jones KL","year":"1979"},{"key":"e_1_2_1_17_2","first-page":"174","volume-title":"The Developing Human","author":"Moore KL","year":"1977"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320080404","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320080404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T22:40:52Z","timestamp":1699828852000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320080404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,1]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1981,1]]}},"alternative-id":["10.1002\/ajmg.1320080404"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320080404","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1981,1]]}}}