A Sibship Of Bardet-Biedl Syndrome With Hepatocellular Damage.
Loading...
Date
1996-01
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
A sibship of two, a brother and sister with the cardinal features of recessively inherited Bardet-Biedel syndrome (BBS) with three other affected relatives is described. All the affected, expect one in the family of six generations were born to consanguineous parents. Clinical feature in the probands included cardinal features of BBS along with strikingly short metacarpals. Biochemical estimations on the two affected sibs revealed elevated liver enzymes, prolonged clotting and prothrombin time, suggesting liver cell damage or dysfunction. This is a first report of such an association of hepatocellular damage with BBS.
Description
Keywords
Bardet-Biedl Syndrome, Consanguinity, hepatocellular damage, Short metacarpals
Citation
Padma T, Reddy K Sadhana. A Sibship Of Bardet-Biedl Syndrome With Hepatocellular Damage. Indian Journal of Human Genetics. 1996 Jan; 2(1): 59-63.