{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:41:08Z","timestamp":1759333268147},"reference-count":42,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4628,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two infants with cystic kidney dysplasia and polydactyly were born to consanguineous parents. One infant died at age 2 months, and the other is currently 3.5 years old. A third pregnancy was terminated following ultrasonographic visualization of large echodense fetal kidneys and polydactyly. Although none had apparent brain anomalies, they were considered to represent the Meckel syndrome. Extinguished responses on electroretinography in our 3.5\u2010year\u2010old patient has led to the diagnosis of Bardet\u2010Biedl syndrome. This observation offers an opportunity to revisit the Bardet\u2010Biedl syndrome and provides further evidence that structural renal abnormalities are characteristic of the syndrome. We wish to alert the clinician to the diagnosis of Bardet\u2010Biedl syndrome in patients with infantile cystic kidney dysplasia. \u00a9 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440302","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:21:52Z","timestamp":1118506912000},"page":"269-273","source":"Crossref","is-referenced-by-count":23,"title":["Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet\u2010Biedl syndrome"],"prefix":"10.1002","volume":"44","author":[{"given":"Ruth","family":"Gershoni\u2010Baruch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tal","family":"Nachlieli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rina","family":"Leibo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shimon","family":"Degani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irith","family":"Weissman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1148\/109.3.659"},{"key":"e_1_2_1_3_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_4_1","volume-title":"Dysmorphology","author":"Anderson VM","year":"1982"},{"issue":"3","key":"e_1_2_1_4_2","first-page":"145","journal-title":"BD:OAS"},{"issue":"2","key":"e_1_2_1_5_1","first-page":"109","article-title":"Focal sclerosing glomerulonephritis in a child with Laurence\u2010Moon\u2010Biedl syndrome","volume":"10","author":"Barakat AJ","year":"1990","journal-title":"Child Nephrol Urol"},{"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":"132","article-title":"Assessment of opthalmologic, endocrinologic and genetic findings in the Bardet\u2010Biedl syndrome","volume":"11","author":"Bergsma DR","year":"1975","journal-title":"Birth Defects"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.52.12.968"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.64.754.621"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02926564"},{"key":"e_1_2_1_11_1","first-page":"151","article-title":"Renal disease\u2014a 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_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(70)90885-8"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.30.11.1077"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00857673"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090112"},{"key":"e_1_2_1_16_1","first-page":"175","article-title":"Renal involvement in the Laurence\u2010Moon\u2010Biedl syndrome. A propos of 3 cases","volume":"39","author":"Gourdol O","year":"1984","journal-title":"Pediatrie"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198910123211503"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198809083191005"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80580-4"},{"key":"e_1_2_1_20_1","first-page":"286","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1988"},{"key":"e_1_2_1_21_1","first-page":"385","article-title":"Le syndrome de Laurence\u2010Moon\u2010Biedl signes urographiques","volume":"17","author":"Labrune M","year":"1974","journal-title":"Annals Radiologie"},{"key":"e_1_2_1_22_1","first-page":"959","article-title":"Laurence\u2010Moon\u2010Biedl syndrome\u2010Urographic observations","volume":"78","author":"Lee JW","year":"1978","journal-title":"N Y State J Med"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1986.tb10192.x"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140303"},{"key":"e_1_2_1_25_1","first-page":"243","article-title":"Nefropathia do sindrome do Laurence\u2010Moon\u2010Bardet\u2010Biedl. Nota preliminar","volume":"17","author":"Magro FC","year":"1970","journal-title":"Revista Iberica de Endocrinologia"},{"key":"e_1_2_1_26_1","first-page":"167","article-title":"Syndrome de Meckel: Genealogie inhabituelle","volume":"27","author":"Malpuech G","year":"1979","journal-title":"J Genet Hum"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80403-0"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1700930106"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992287501400904"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.1983.tb06571.x"},{"key":"e_1_2_1_31_1","volume-title":"The Clinical Delineation of Birth Defects. Part 2. Malformation Syndromes","author":"Opitz JM","year":"1969"},{"key":"e_1_2_1_31_2","first-page":"167","journal-title":"BD:OAS"},{"key":"e_1_2_1_32_1","first-page":"283","article-title":"Ultrastructural changes in the glomerular basement membrane of patients with Laurence\u2010Moon\u2010Biedl syndrome","volume":"16","author":"Price D","year":"1981","journal-title":"Clin Nephrol"},{"key":"e_1_2_1_33_1","first-page":"305","article-title":"Electroretinography and diagnosis of the Laurence\u2010Moon\u2010Bardet\u2010Biedl syndrome in childhood","volume":"14","author":"Prosperi L","year":"1982","journal-title":"J Pediatr Ophtalmol"},{"issue":"5","key":"e_1_2_1_34_1","first-page":"405","article-title":"Laurence\u2010Moon\u2010Biedl syndrome, chronic diffuse tubulo\u2010interstitial nephritis and liver involvements","volume":"40","author":"Roussel B","year":"1985","journal-title":"Helv Pediatr Acta"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180415"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1159\/000185089"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1982.01030030287011"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050408"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01811.x"},{"key":"e_1_2_1_40_1","first-page":"199","article-title":"Renal abn in the B\u2010B Syndrome","volume":"3","author":"Tieder M","year":"1982","journal-title":"Int J Pediatr Nephrol"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02388419"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320440302","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320440302","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T01:41:01Z","timestamp":1698111661000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320440302"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,10]]},"references-count":42,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1992,10]]}},"alternative-id":["10.1002\/ajmg.1320440302"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320440302","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,10]]}}}