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.
MeSH terms
-
Abnormalities, Multiple / diagnosis
-
Abnormalities, Multiple / drug therapy
-
Abnormalities, Multiple / epidemiology
-
Abnormalities, Multiple / genetics*
-
Acidosis, Renal Tubular / diagnosis
-
Acidosis, Renal Tubular / drug therapy
-
Acidosis, Renal Tubular / epidemiology
-
Acidosis, Renal Tubular / genetics*
-
Arthrogryposis / diagnosis
-
Arthrogryposis / drug therapy
-
Arthrogryposis / epidemiology
-
Arthrogryposis / genetics*
-
Atrophy
-
Cholestasis / diagnosis
-
Cholestasis / drug therapy
-
Cholestasis / epidemiology
-
Cholestasis / genetics*
-
Consanguinity
-
Corpus Callosum / pathology*
-
Female
-
Genes, Recessive / genetics
-
Hearing Loss, Sensorineural / diagnosis
-
Hearing Loss, Sensorineural / drug therapy
-
Hearing Loss, Sensorineural / epidemiology
-
Hearing Loss, Sensorineural / genetics*
-
Heart Defects, Congenital / diagnosis
-
Heart Defects, Congenital / drug therapy
-
Heart Defects, Congenital / epidemiology
-
Heart Defects, Congenital / genetics*
-
Humans
-
Infant, Newborn
-
Pedigree
-
Retrospective Studies
-
Saudi Arabia / epidemiology
-
Syndrome
-
Ursodeoxycholic Acid / therapeutic use