PT  - JOURNAL ARTICLE
AU  - Abdullah, Mohamed A.
AU  - Al-Hasnan, Zuhair
AU  - Okamoto, Emi
AU  - Abomelha, Abdullah M.
TI  - Arthrogryposis, renal dysfunction and cholestasis syndrome
DP  - 2000 Mar 01
TA  - Saudi Medical Journal
PG  - 297--299
VI  - 21
IP  - 3
4099  - http://smj.org.sa/content/21/3/297.short
4100  - http://smj.org.sa/content/21/3/297.full
SO  - Saudi Med J2000 Mar 01; 21
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.