The clinical and genetic epidemiology of Laurence-Moon-Bardet-Biedl syndrome in Newfoundland

Moore, S. J. (2003) The clinical and genetic epidemiology of Laurence-Moon-Bardet-Biedl syndrome in Newfoundland. Masters thesis, Memorial University of Newfoundland.

[English] PDF - Accepted Version Available under License - The author retains copyright ownership and moral rights in this thesis. Neither the thesis nor substantial extracts from it may be printed or otherwise reproduced without the author's permission. Download (2MB)

Abstract

Background -- Bardet-Biedl Syndrome (BBS) and Laurence-Moon Syndrome (LMS) are differentiated by the presence of spasticity and the absence of polydactyly in LMS. The aims of this study were to determine whether BBS and LMS are the same disorder, describe the clinical and genetic epidemiology and examine genotype-phenotype relationships. -- Methods -- A population-based, prospective study was conducted. 46 patients from 26 families were enrolled. Patients and relatives were genotyped at BBS loci. Longitudinal and cross-sectional clinical data were analysed. -- Results -- There were at least six BBS genes in the cohort. Characteristic craniofacial dysmorphic features were identified. Neurological manifestations were prevalent. 2/46 patients were diagnosed clinically as LMS but both had mutations in a BBS gene. Major clinical outcomes were similar for all genotypes. – Conclusions -- LMS and BBS are the same disorder. It is associated with a characteristic craniofacial dysmorphology and abnormalities in almost every organ system. The widespread systemic involvement and lack of a genotype-phenotype correlation implies that the BBS genes are involved in the same early developmental pathway.

Actions (login required)

View Item