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Neuroscutaneous syndromes in children

Langue : Français

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Couverture de l’ouvrage Neuroscutaneous syndromes in children
Neurocutaneous syndromes unify a group of rare neurological disorders in wich the initial identification depends on simple visual diagnosis. They include a large group of neurological disorders ( neurofibromatosis type I, tuberous sclerosis complex, Sturge-Weber syndrome, Von Hippel Lindau syndrome, hypomelanosis of ito, and others ) wich feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, lental retardation, seizures, and psychiatric problems. In the past, few years our knowledge of neurocutaneous syndromes has increased substantially. Detailed information about the clinical features, natural history, and management of these complex multisystem disorders, and new data on the genetics of these conditions, has provided insight into their classification, pathophysiology, molecular biology and genotype-phenotype correlations. The aim of this volume is to provide an updated developmental perspective on these multi-faceted conditions and to review their major clinical features, in particular their embryological basis, clinical genetics, diagnsotic protocols, and novel therapeutic approach.

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