TY - JOUR
T1 - Jeune syndrome and liver disease
T2 - Report of three cases treated with ursodeoxycholic acid
AU - Labrune, Philippe
AU - Fabre, Monique
AU - Trioche, Pascale
AU - Estournet-Mathiaud, Brigitte
AU - Grangeponte, Marie Claire
AU - Rambaud, Caroline
AU - Maurage, Chantal
AU - Bernard, Olivier
PY - 1999/12/16
Y1 - 1999/12/16
N2 - Three children with Jeune syndrome (asphyxiating thoracic dystrophy) had clinical and laboratory evidence of liver disease. In two patients the disease evolved to biliary cirrhosis, whereas in the third it wins recognized when extensive fibrosis was developing. In the three patients, treatment with ursodeoxycholic acid appeared to control the progression of the hepatic dysfunction.
AB - Three children with Jeune syndrome (asphyxiating thoracic dystrophy) had clinical and laboratory evidence of liver disease. In two patients the disease evolved to biliary cirrhosis, whereas in the third it wins recognized when extensive fibrosis was developing. In the three patients, treatment with ursodeoxycholic acid appeared to control the progression of the hepatic dysfunction.
KW - Jeune syndrome
KW - Liver cirrhosis
KW - Ursodeoxycholic acid
UR - http://www.scopus.com/inward/record.url?scp=0032706308&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19991203)87:4<324::AID-AJMG8>3.0.CO;2-U
DO - 10.1002/(SICI)1096-8628(19991203)87:4<324::AID-AJMG8>3.0.CO;2-U
M3 - Article
C2 - 10588838
AN - SCOPUS:0032706308
SN - 0148-7299
VL - 87
SP - 324
EP - 328
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -