{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T23:47:17Z","timestamp":1791935237033,"version":"4.3.4"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,10,26]],"date-time":"2017-10-26T00:00:00Z","timestamp":1508976000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sensenbrenner syndrome, or cranioectodermal dysplasia, is a rare heterogeneic autosomal recessive disorder, affecting ~1 of 1\u00a0000\u00a0000 live births. The syndrome usually manifests within the first year of life and can present with progressive liver and renal involvement. For all Sensenbrenner patients, renal and liver diseases are the main contributors of morbidity and mortality. In this report, we present the case of a 7\u2010year\u2010old boy with congenital liver disease progressing to liver failure secondary to Sensenbrenner syndrome. For this patient, evidence of liver dysfunction was evident from 2\u00a0months of age and progressed to frank cirrhosis and severe portal hypertension with multiple episodes of life\u2010threatening variceal bleeding by age 6. This report illustrates the capability of orthotopic liver transplantation as a viable therapy for those pediatric patients suffering from severe liver failure secondary to a congenital ciliopathy, such as Sensenbrenner syndrome. In fact, early emphasis should be placed on the renal and liver involvement associated with Sensenbrenner syndrome with particular consideration for early referral for transplantation in cases with severe disease. Although the condition is rare, clinicians should be aware of it and its association with fatal liver disease to facilitate appropriate evaluation and referral.<\/jats:p>","DOI":"10.1111\/petr.13077","type":"journal-article","created":{"date-parts":[[2017,10,27]],"date-time":"2017-10-27T04:12:53Z","timestamp":1509077573000},"source":"Crossref","is-referenced-by-count":3,"title":["Orthotopic liver transplantation for Sensenbrenner syndrome"],"prefix":"10.1111","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9444-4590","authenticated-orcid":false,"given":"Ruth Linda","family":"Ackah","sequence":"first","affiliation":[{"name":"Division of Abdominal Transplantation and Hepatobiliary Surgery Michael E. DeBakey Department of Surgery Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5041-7782","authenticated-orcid":false,"given":"Dor","family":"Yoeli","sequence":"additional","affiliation":[{"name":"Division of Abdominal Transplantation and Hepatobiliary Surgery Michael E. DeBakey Department of Surgery Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Kueht","sequence":"additional","affiliation":[{"name":"Division of Abdominal Transplantation and Hepatobiliary Surgery Michael E. DeBakey Department of Surgery Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nhu Thao Nguyen","family":"Galv\u00e1n","sequence":"additional","affiliation":[{"name":"Division of Abdominal Transplantation and Hepatobiliary Surgery Michael E. DeBakey Department of Surgery Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald Timothy","family":"Cotton","sequence":"additional","affiliation":[{"name":"Division of Abdominal Transplantation and Hepatobiliary Surgery Michael E. DeBakey Department of Surgery Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abbas","family":"Rana","sequence":"additional","affiliation":[{"name":"Division of Abdominal Transplantation and Hepatobiliary Surgery Michael E. DeBakey Department of Surgery Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine Ann","family":"O'Mahony","sequence":"additional","affiliation":[{"name":"Division of Abdominal Transplantation and Hepatobiliary Surgery Michael E. DeBakey Department of Surgery Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John Alan","family":"Goss","sequence":"additional","affiliation":[{"name":"Division of Abdominal Transplantation and Hepatobiliary Surgery Michael E. DeBakey Department of Surgery Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,10,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.012"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.004"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35608"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36265"},{"key":"e_1_2_7_6_1","unstructured":"ArtsH KnoersN.Cranioectodermal dysplasia. GeneReviews\u00ae. University of Washington Seattle.2013. 1993\u20102017 p. Retrieved fromhttps:\/\/www.ncbi.nlm.nih.gov\/books\/NBK154653\/"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31464"},{"key":"e_1_2_7_8_1","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1002\/9781119046936","volume-title":"Diseases of the Liver and Biliary System in Children","author":"Kelly DA","year":"2017"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01880.x"}],"container-title":["Pediatric Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpetr.13077","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/petr.13077","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T14:30:58Z","timestamp":1695738658000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/petr.13077"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,26]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1111\/petr.13077"],"URL":"https:\/\/doi.org\/10.1111\/petr.13077","archive":["Portico"],"relation":{},"ISSN":["1397-3142","1399-3046"],"issn-type":[{"value":"1397-3142","type":"print"},{"value":"1399-3046","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10,26]]},"article-number":"e13077"}}