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Original Article
Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center
Kyung Jin Ahn, Ja Kyoung Yoon, Gi Beom Kim, Bo Sang Kwon, Jung Min Go, Jin Su Moon, Eun Jung Bae, Chung Il Noh
Clin Exp Pediatr. 2015;58(10):392-397.   Published online October 21, 2015
Purpose

Alagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a critical factor for determining the prognosis.

Methods

We conducted a retrospective study of 41 patients with Alagille syndrome...

A case of hereditary pancreatitis with a N29I mutation in the cationic trypsinogen gene
Jee Youn Shin, You Jeong Kim, Jeong Kee Seo
Clin Exp Pediatr. 2006;49(10):1067-1072.   Published online October 15, 2006
Purpose : The purpose of this study was to examine the clinical courses and long-term outcomes of children with Allagille syndrome in Korea, and to evaluate the prognostic potentials of identified variables. Methods : We reviewed the clinical manifestations and outcomes of 30 children with Alagille syndrome, investigated from 1984 to 2006 until the end of this study (defined as death...
Jagged1 mutation analysis in Alagille syndrome patients
Jae Sung Ko, Hye Ran Yang, Kyung Mo Kim, Jeong Kee Seo
Clin Exp Pediatr. 2006;49(5):519-522.   Published online May 15, 2006
Purpose : Alagille syndrome is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged1(JAG1) gene, which encodes a ligand of Notch, has been found mutated in Alagille syndrome. The aim of the study was to investigate the mutation analysis of JAG1 gene in Korean patients with Alagille syndrome. Methods : Genomic DNA...
Case Report
A Case of Moyamoya Disease in a Child with Alagille Syndrome
Mi Rang Lim, So Yaun Lee, Deok Soo Kim, Kyung Mo Kim, Tae Sung Ko
Clin Exp Pediatr. 2003;46(1):86-90.   Published online January 15, 2003
Alagille syndrome is a autosomal dominant disorder characterized by intrahepatic bile duct paucity and resultant chronic cholestasis in combination with cardiac(mainly peripheral pulmonary stenosis), skeletal, ocular, and facial abnormalities. In addition to the pulmonary stenosis, in large series, anecdotal reports of vascular lesions have concerned the renal artery, aorta, hepatic artery, carotid artery, celiac artery or subclavian artery. Theses diffuse...
A Case of Alagille Syndrome
Eun Kyung Hwang, Gwang Hoon Lee, Eell Ryoo, Kang Ho Cho, Gil Hyun Kim, Hak Soo Lee, Ji Hye Kim, Sung Hae Park, Hee Sup Kim
Clin Exp Pediatr. 1998;41(3):410-414.   Published online March 15, 1998
Alagille syndrome is characterized by chronic cholestasis, posterior embryotoxon, skeletal abnormalities, cardiovascular abnormalities, and a typical face with prominent forehead and pointed chin. Its histological feature includes paucity of interlobular bile ducts. We experienced a 49-day-old female infant presenting with frequent upper respiratory tract infection and persistent jaundice. She had a typical face and chronic cholestasis. Echocardiograms revealed peripheral pulmonary...
Original Article
Three cases of Watson-Alagille syndrome.
Eun Kyeong Bom, Dae Hyun Kim, Dong Hoon Koh, Young Youn Choi, Jae Sook Ma, Tae Ju Hwang
Clin Exp Pediatr. 1991;34(12):1699-1706.   Published online December 31, 1991
Watson-Alagille syndrome is a kind of familial intrahepatic biliary atresia associated with charac- teristic face and cardiovascular anomaly. Growth and developmental delay, anomalies of the eyes such as posterior embryotoxon, deformities of the skeletal system are often the manifestations of this syndrome. We experienced three cases of Watson-Alagille syndrome recently. These patients showed charac- teristic faces and had peripheral pulmonary artery stenosis diagnosed by pulmonary...
Case Report
Two Case of Watson-Alagille Syndrome.
Heon Seok Han, Soo Heum Lim, Young Sun Kim, Jeong Kee Seo, Hyung Ro Moon
Clin Exp Pediatr. 1985;28(10):1047-1051.   Published online October 31, 1985
Watson-Alagille syndrome (Arteriohepatic dysplasia, Syndromatic paucity of interlobular bile duct), a disease characterized by chronic liver disease, characteristic facies, cardiova scular abnormalities, and vertebral arch abnormalities has paucity of interlobular bile ducts on histologic examination of liver. We experienced two cases of Watson-Alagille syndrome in a 7-month-old male infant and a 12-month-old male infant who had the chief complaint of...