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An introduction to skeletal dysplasias: clinical and radiographic aspects, molecular pathogenesis and classification, diagnostic approach and management

Andrea Superti-Furga, M.D.
Professor of Pediatrics, University of Lausanne
Head, Division of Molecular Pediatrics, University Hospital Center, Lausanne

Criteria used for classification of skeletal dysplasia phenotypes were clinical, radiographic, and genetic. Progress in molecular studies has continued to turn out new genes and to unveil novel molecular mechanisms. However, the expectation that molecular results might simplify the classification of skeletal dysplasias has proven wrong. Molecular classification adds a further fascinating dimension of complexity. The molecular-pathogenetic classification comprises eight groups: structural proteins of extracellular matrix; metabolic processes; macromolecular folding and degradation; hormones and signal transduction mechanisms; transcription factors; oncogenes and tumor suppressor genes; DNA and RNA metabolism; and intracellular structural proteins. Molecular dissection of skeletal dysplasias and dysostoses has turned the skeletal system into an unique biologic model. Yet, these advances are difficult to synchronize with daily practice. The use of telemedicine may be useful, as implemented in European Skeletal Dysplasia Network project. Images (clinical and radiographic), differential diagnosis list, and appropriate laboratory test are available within the ESDN. This approach is beneficial to the patients and their referring physicians. A molecularly confirmed diagnosis is the basis for screening of likely complications and for more timely treatment, for careful planning of possible orthopedic and surgical interventions, and genetic counseling and prenatal diagnosis.

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