{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:35:47Z","timestamp":1791333347547,"version":"4.3.1"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3949,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Bardet\u2010Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, hypogenitalism, and renal involvement. A high incidence of congenital and acquired heart disease was reported in the former \u201cLaurence\u2010Moon\u2010Biedl\u2010Bardet\u201d syndrome. However, since the establishment of the Bardet\u2010Biedl syndrome as a separate clinical entity, cardiac involvement has not been evaluated in this disorder. We have performed echocardiographic studies on 22 patients with the Bardet\u2010Biedl syndrome from three extended, highly inbred Bedouin families. In addition to previously reported congenital heart defects we have observed hypertrophy of the interventricular septum and dilated cardiomyopathy. Our findings of cardiac involvement in 50% of the cases suggest that echocardiographic examination should be included in the clinical evaluation and follow\u2010up of patients with Bardet\u2010Biedl syndrome. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320520208","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:16:50Z","timestamp":1118510210000},"page":"164-169","source":"Crossref","is-referenced-by-count":88,"title":["Cardiac abnormalities in the Bardet\u2010Biedl syndrome: Echocardiographic studies of 22 patients"],"prefix":"10.1002","volume":"52","author":[{"given":"Khalil","family":"Elbedour","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nili","family":"Zucker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eli","family":"Zalzstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yechiel","family":"Barki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rivka","family":"Carmi","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","first-page":"1","article-title":"Investigations cliniques et genetiques sur le syndrome de Bardet\u2010Biedl en Suisse","volume":"18","author":"Ammann F","year":"1970","journal-title":"J Genet Hum"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-1-11-905"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320160107"},{"key":"e_1_2_1_5_1","unstructured":"BardetG(1920):Sur un syndrome d'obesite congenitale avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). These de Paris No. 470."},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1973.02110190107024"},{"key":"e_1_2_1_7_1","first-page":"1630","article-title":"Ein Geschwisterpaar mit adiposo\u2010genitaler Dystrophie","volume":"48","author":"Biedl A","year":"1922","journal-title":"Dtch med Wochenschr"},{"key":"e_1_2_1_8_1","first-page":"391","article-title":"Laurence\u2010Moon\u2010Bardet\u2010Biedl syndrome: Review of the literature and a report of five cases including a family group with three affected males","volume":"71","author":"Blumel J","year":"1959","journal-title":"Tex Rep Biol Med"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.47.2.122"},{"key":"e_1_2_1_10_1","first-page":"976","article-title":"E'tude endocrinienne de 4 cas de dystrophie adiposogenitale avec retinite pigmentaire et malformations ou syndrome de Laurence\u2010Moon\u2010Biedl","volume":"15","author":"Canivez R","year":"1954","journal-title":"Ann Endocrinol"},{"key":"e_1_2_1_11_1","first-page":"591","article-title":"La sindrome di Laurence\u2010Moon\u2010Biedl associata ad impotiroidisimo terziario","volume":"82","author":"Capellini Q","year":"1991","journal-title":"Minerva Med"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1445-5994.1977.tb03693.x"},{"key":"e_1_2_1_13_1","first-page":"151","article-title":"Renal disease: A sixth cardinal feature of the Laurence\u2010Moon\u2010Biedl syndrome","volume":"16","author":"Churchill DN","year":"1981","journal-title":"Clin Nephrol"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-10-1-108"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198910123211503"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80580-4"},{"key":"e_1_2_1_17_1","first-page":"118","article-title":"Slowly progressive paraplegia and disease of the choroid with defective intellect and arrested sexual development in several brothers and a sister","volume":"11","author":"Hutchinson J","year":"1990","journal-title":"Arch Surg"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02429041"},{"key":"e_1_2_1_19_1","first-page":"246","article-title":"Laurence\u2010Moon\u2010Biedl syndrome","volume":"25","author":"Laha PM","year":"1968","journal-title":"Indian J Pediatr"},{"key":"e_1_2_1_20_1","first-page":"32","article-title":"Four cases of retinitis pigmentosa","volume":"2","author":"Laurence JZ","year":"1866","journal-title":"Br Ophthal Rev"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80403-0"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1700930106"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(85)90675-7"},{"key":"e_1_2_1_24_1","first-page":"299","article-title":"Laurence\u2010Moon\u2010Biedl\u2010Bardet\u2010syndrom. bei einei\u2010igen Zwillingen: Folge einer intrauterinen Fruchtschadigung.?","volume":"141","author":"Moench A","year":"1954","journal-title":"Zschr Geburtsh Gynak"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1210\/endo-16-4-337"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1700720122"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1982.01030030287011"},{"key":"e_1_2_1_28_1","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1093\/oxfordjournals.eurheartj.a062236","article-title":"Dialated cardiomyopathy in childhood: Problems of diagnosis and long term follow\u2010up","volume":"8","author":"Schmaltz AA","year":"1987","journal-title":"Eur Heart J"},{"key":"e_1_2_1_29_1","first-page":"413","article-title":"Anatomopathological and histological observations on Laurence\u2010Moon\u2010Biedl\u2010Bardet syndrome","volume":"29","author":"Spigolon G","year":"1959","journal-title":"Arch \u201cde Vecchi\u201d Anat Pathol"},{"key":"e_1_2_1_30_1","first-page":"331","article-title":"A case of the Laurence\u2010Moon\u2010Biedl syndrome. with paranoid psychosis","volume":"60","author":"Todd J","year":"1955","journal-title":"Am J Ment Deficiency"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320520208","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320520208","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T06:20:13Z","timestamp":1698128413000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320520208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,8,15]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1994,8,15]]}},"alternative-id":["10.1002\/ajmg.1320520208"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320520208","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,8,15]]}}}