Zur Klinik und Genetik von Skelettdysplasien mit Modellierungsstörungen, Hyperostose und Sklerose
Homeostasis of bone tissue is maintained by the balanced process of bone formation and resorption. Increased ossification in relation to resorption gives rise to conditions with modelling defects, hyperostosis and sclerosis. Skeletal diseases with these signs are classified as sclerosing bone dysplasias. The work presented here focuses on five skeletal dysplasias from the group of sclerosing bone dysplasias: (1) Craniometaphyseal dysplasia, autosomal dominant form (MIM #123000); (2) Metaphyseal dysplasia, Braun-Tinschert type (MIM *605946); (3) Caffey syndrome (MIM *114000); (4) McCune-Albright syndrome (MIM #174800); (5) Melorheostosis (MIM 155950). They were investigated at different pathogenetic levels that represent different steps on the path from phenotypic characterisation to clarification of the respective basic molecular defect. This work has contributed to our understanding of the molecular basis of skeletal diseases.
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School:Humboldt-Universität zu Berlin
Source Type:Master's Thesis
Keywords:Skelettdysplasien Modellierungsstörung Hyperostose Caffey-Syndrom McCune-Albright-Syndrom Melorheostose Skeletal dysplasias modelling defect sclerosis hyperostosis Craniometaphyseal dysplasia Caffey syndrome McCune-Albright Melorheostosis
Date of Publication:03/08/2004