Case Report

Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis: A Case Report and A Review of a Cohort of BBS Patients

Table 1

Clinical characteristics of a cohort of 15 patients with Bardet-Biedl syndrome.

PatientsDate of birthGenderMolecular testing of BBS gene defect
(age at the test (years))
Follow-up period duration (years)Associated chronic inflammatory or auto-immune disorders

18/03/1968FNo26/
210/09/1970MNo17/
59/10/1970FNo8.2/
305/11/1973MNo21.5/
49/07/1974FNo17/
610/12/1977FNo16.1/
711/01/1979FNo14.2/
830/06/1980FNo15.3/
98/12/1983MNo9.3/
105/04/1984MNo8.1Juvenile rheumatoid arthritis
1116/06/1985MNo17.9Type 1 diabete mellitus, Hashimoto thyroiditis, Psoriasis
1222/04/1986MNo0.8/
1330/12/1988MYes (14)15.2/
1404/11/1997MYes (9)14Crohn's disease, primary sclerosing cholangitis, Hashimoto thyroiditis
1504/09/2002MNo9.3/

F: female, M: male.