{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T11:53:30Z","timestamp":1779191610266,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2008,8,1]],"date-time":"2008-08-01T00:00:00Z","timestamp":1217548800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2008,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives:<\/jats:title><jats:p>To identify facial and biochemical characteristics as early clinical features of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods:<\/jats:title><jats:p>Ten patients with diagnoses of NICCD by SLC25A13 mutation analysis in Taiwan were recruited. A \u201cChubby Index\u201d was developed for objective measurement of their facial characteristics. Liver function profiles were analyzed and compared with data on neonatal hepatitis and biliary atresia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Chubby face was observed in early infancy in all 5 patients whose serial photographs were taken. A significant difference in the Chubby Index was seen between NICCD infants and healthy infants (1.331 \u00b1 0.07 vs 1.068 \u00b1 0.059; <jats:italic>P<\/jats:italic> &lt; 0.05). NICCD is characterized by an aspartate aminotransferase\u2013to\u2013alanine aminotransferase ratio of 2 or greater, a direct bilirubin\u2013to\u2013total bilirubin ratio under 0.67, and a standard deviation score for \u03b1\u2010fetoprotein of 4 or greater, with respect to neonatal hepatitis and biliary atresia. Although chubby face, abnormal liver function profiles, and multiple amino acidemia gradually disappeared after age 1 year, an increase in hepatic echogenicity was observed in most patients in long\u2010term follow\u2010up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>Our Chubby Index is an informative measurement of the facial characteristics of infants with NICCD. The chubby face features, along with an aspartate aminotransferase\u2013to\u2013alanine aminotransferase ratio of 2 or greater, a direct bilirubin\u2013to\u2013total bilirubin ratio under 0.67, and a standard deviation score for \u03b1\u2010fetoprotein of 4 or greater, may serve as useful clinical indicators for diagnosing NICCD early in infancy.<\/jats:p><\/jats:sec>","DOI":"10.1097\/mpg.0b013e318162d96d","type":"journal-article","created":{"date-parts":[[2009,3,5]],"date-time":"2009-03-05T21:32:13Z","timestamp":1236288733000},"page":"187-192","source":"Crossref","is-referenced-by-count":22,"title":["Chubby Face and the Biochemical Parameters for the Early Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency"],"prefix":"10.1002","volume":"47","author":[{"given":"Hung\u2010Wen","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huey\u2010Ling","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yen\u2010Hsuan","family":"Ni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ni\u2010Chung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin\u2010Hsiu","family":"Chien","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wuh\u2010Liang","family":"Hwu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan\u2010Te","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kaohsiung Veterans General Hospital Kaohsiung Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pao\u2010Chin","family":"Chiu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kaohsiung Veterans General Hospital Kaohsiung Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei\u2010Hwei","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital Taipei 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