{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:41:57Z","timestamp":1791207717242,"version":"4.1.0"},"reference-count":15,"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":4402,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We tabulated the frequency of renal abnormalities in 40 Williams syndrome individuals presenting for medical and\/or developmental assessment to a multi\u2010disciplinary Williams syndrome program. The average age at time of assessment was 7<jats:sup>2<\/jats:sup>\/12 years. Seven individuals (7\/40 = 18%) had abnormalities detected, including nephrocalcinosis = 2; marked asymmetry in kidney size = 2; small kidneys = 1; solitary kidney = 1; and pelvic kidney = 1.<\/jats:p><jats:p>Renal function was also assessed. Two individuals had evidence of renal dysfunction, one secondary to nephrocalcinosis and the second due to hypercalcemia and interstitial nephritis of unclear pathogenesis.<\/jats:p><jats:p>We examined the frequency of renal artery stenosis in 9 individuals who underwent abdominal angiography during cardiac catheterization. We found unilateral or bilateral mild renal artery narrowing in 4 individuals and normal renal arteries in the remaining 5. Persistent hypertension occurred in only 2 individuals and did not correlate with renal artery status.<\/jats:p><jats:p>We conclude that intrinsic renal anomalies, as well as problems secondary to hypercalcemia, occur with sufficient frequency to warrant baseline renal screening in all individuals with Williams syndrome. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460306","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:56:09Z","timestamp":1118508969000},"page":"271-274","source":"Crossref","is-referenced-by-count":91,"title":["Renal findings in 40 individuals with Williams syndrome"],"prefix":"10.1002","volume":"46","author":[{"given":"Barbara R.","family":"Pober","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald V.","family":"Lacro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia","family":"Rice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Mandell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita L.","family":"Teele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(64)90154-7"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280119"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02387666"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80299-9"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02279886"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80356-8"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1542\/peds.84.5.895","article-title":"Contractures in patients with Williams syndrome","volume":"84","author":"Kaplan P","year":"1989","journal-title":"Pediatrics"},{"key":"e_1_2_1_9_1","unstructured":"LacroRV MandellV PoberB(1992): Cardiovascular disease in Williams syndrome. (Abstract)Proc Greenwood Genetic Center(In Press)."},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.59.7.605"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80272-5"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1542\/peds.84.6.1086","article-title":"Renal abnormalities in school children","volume":"84","author":"Sheih C\u2010P","year":"1989","journal-title":"Pediatrics"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(88)92464-6"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1542\/peds.82.4.609","article-title":"Ultrasound screening of healthy infants for urinary tract abnormalities","volume":"82","author":"Steinhart JM","year":"1988","journal-title":"Pediatrics"},{"key":"e_1_2_1_15_1","first-page":"110","article-title":"Das Syndrom der Supravalvul\u00e4ren Aortenstenose (Williams\u2010Beuren\u2010Syndrom) in Verbindung mit Ver\u00e4nderungen der Niere und Ableitenden Harwege","volume":"132","author":"Stoermer J","year":"1984","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.24.6.1311"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460306","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460306","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T03:35:34Z","timestamp":1698291334000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460306"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,5,15]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1993,5,15]]}},"alternative-id":["10.1002\/ajmg.1320460306"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460306","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,5,15]]}}}