Beschreibung:
In the past two decades we have seen a surge forward in understanding the genetics and biochemistry underlying many pediatric orthopaedic disorders. A few projects have even progressed into the realm of clinical trials that are primarily aimed at controlling progressive disease. Meanwhile, genomic technology development has outpaced expectations and is enabling gene discovery for disorders that were previously intractable with traditional genetic methods. Included in this latter category are common disorders that display multigenic inheritance, sporadic disorders, and very rare conditions that are difficult to ascertain. Simultaneously, the study of pediatric orthopaedic disorders has been continuously refined and updated, highlighting a number of likely genetic conditions that are as yet unsolved.
Overview of next generation, high-throughput molecular genetic methods.- Neurofibromin in skeletal development.- Molecular genetics of congenital multiple large joint dislocation.- DMP-1 in postnatal bone development.- The genetic architecture of idiopathic scoliosis.- Insights into the genetics of clubfoot.- Classification and etiologic dissection of vertebral segmentation anomalies.- Genetic and environmental interaction in malformation of the vertebral column.- Somatic mutations in overgrowth syndromes.- Index.