{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T01:13:47Z","timestamp":1770340427221,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"21","license":[{"start":{"date-parts":[[2006,10,4]],"date-time":"2006-10-04T00:00:00Z","timestamp":1159920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cranioectodermal dysplasia (CED, Sensenbrenner syndrome; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and nail dysplasia, and progressive tubulo\u2010interstitial nephritis (TIN) leading to end\u2010stage renal failure. Herein, we describe a new patient with cranio\u2010ectodermal dysplasia. Unlike previously reported cases, this 4\u2010year\u2010old child presented with tubulo\u2010interstitial nephropathy associated with liver cystic disease and elevated liver enzymes. The liver biopsy demonstrated congenital hepatic fibrosis secondary to ductal plate malformation. The coexistence of a chronic tubulo\u2010interstitial renal disease with lesions associated to malformations of the hepatic ductal plate indicates that CED as a new member of the congenital hepatorenal fibrocystic syndromes. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31464","type":"journal-article","created":{"date-parts":[[2006,10,4]],"date-time":"2006-10-04T21:28:40Z","timestamp":1159997320000},"page":"2336-2340","source":"Crossref","is-referenced-by-count":25,"title":["Sensenbrenner syndrome: A new member of the hepatorenal fibrocystic family"],"prefix":"10.1002","volume":"140A","author":[{"given":"Marco","family":"Zaffanello","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Diomedi\u2010Camassei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Luisa","family":"Melzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuliano","family":"Torre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Callea","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Emma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,10,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<349::AID-AJMG3>3.0.CO;2-O"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-196446060-00004"},{"key":"e_1_2_5_4_1","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/S0025-6196(11)63624-0","article-title":"Ludwig symposium on biliary disorders\u2014Part I. 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