{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:28:06Z","timestamp":1790728086318,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4375,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 17\u2010year\u2010old boy with Kallmann syndrome had complex congenital heart disease that included double\u2010outlet right ventricle, d\u2010malposition of the great arteries, right aortic arch, and hypoplastic main pulmonary artery. He had neurosensory hearing loss and mental retardation. The 7 previously reported patients with Kallmann syndrome and cardiac abnormalities were short with height \u22652 standard deviations below the mean for age (5\/7), lacked a family history of Kallmann syndrome (6\/6), and were mentally retarded (4\/4). Patients presenting with Kallmann syndrome and congenital heart defects appear to represent a distinct subgroup of patients with Kallmann syndrome. The cause of this association is unclear, but may involve either autosomal recessive inheritance, sporadic dominant mutation, or a shared teratogenic event during the first trimester of gestation. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460518","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:59:31Z","timestamp":1118509171000},"page":"551-554","source":"Crossref","is-referenced-by-count":18,"title":["Congenital heart disease associated with sporadic Kallmann syndrome"],"prefix":"10.1002","volume":"46","author":[{"given":"Alan B.","family":"Cortez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvaro","family":"Galindo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederick W.","family":"Arensman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelis","family":"van Dop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199206253262606"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.248.11.1358"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/353529a0"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01228269"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-0736(77)80071-X"},{"key":"e_1_2_1_7_1","unstructured":"HammillPVV DrizdTA JohnsonCL ReedRB RocheAF(1977):NCHS growth curves for children. 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