Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway.

Objectives: This study aimed to determine healthcare needs and care use (provision of healthcare) in adults with Bardet-Biedl syndrome (BBS) and the associations between care use and physical functioning, health status outcomes and distress.

Design: Cross-sectional study.

Setting: Outpatient hospital visits.

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

Background: Bardet-Biedl syndrome (BBS) is a rare nonmotile ciliopathy characterized by retinal dystrophy, polydactyly, obesity, genital anomalies, renal dysfunction, and learning difficulties. The objectives were to describe the retinal, oral, and metabolic characteristics relevant to adults with BBS as well as the prevalence of genetic variants.

Methods: A cross-sectional study of 30 adults with BBS (15 males, 15 females, mean age 39.

Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life.

Bilateral multilocular radiolucencies of the mandible are the main feature of cherubism (OMIM #118400), a rare autosomal dominant disorder primarily affecting the jaw. Typically, symmetrical swelling of the lower face is evident from around three years of age and increases until puberty. The underlying radiolucent lesions consist of vascular fibrotic stroma with scattered multinuclear giant cells.