RT Journal Article
SR Electronic
T1 Arthrogryposis, renal dysfunction and cholestasis syndrome
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 297
OP 299
VO 21
IS 3
A1 Abdullah, Mohamed A.
A1 Al-Hasnan, Zuhair
A1 Okamoto, Emi
A1 Abomelha, Abdullah M.
YR 2000
UL http://smj.org.sa/content/21/3/297.abstract
AB We report for the first time from the Arabian Gulf area 3 patients with arthrogryposis multiplex congenita, cholestasis and renal tubular dysfunction from a Saudi family with 2 other siblings and 3 cousins who possibly died with a similar clinical picture. We also document for the second time in literature other findings in this syndrome including cerebral abnormalities (hypoplastic corpus callosum), congenital heart disease and nerve deafness. We suggest that some of these cases might benefit from ursodeoxycholic acid therapy. We believe that this autosomal recessive disorder is possibly under-diagnosed in this region with a high consanguineous marriage rate.