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Saudi Med J. 2000 Mar;21(3):297-9.

Arthrogryposis, renal dysfunction and cholestasis syndrome.

Author information

1
Endocrinology & Metabolism Unit, Deparment of Pediatrics, Box 9, Security Forces Hospital, PO Box 3643, Riyadh 11481, Kingdom of Saudi Arabia. mohamedabdullah@hotmail.com

Abstract

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.

PMID:
11533803
[Indexed for MEDLINE]

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