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.Molecular
Genetics of Pediatric Orthopaedic Disorders updates researchers and clinicians of new
developments of pediatric orthopaedic genetics. The chapters inform the audience on the
revolution in new genomic methods and the impact this is having on potential study designs and
the potential to discover genetic causes of many unsolved orthopaedic conditions. Recent
examples have been included of pediatric orthopaedic conditions both rare and common that are
being solved with these new methods. The book also educates pediatric orthopedic clinicians and
geneticists on our understanding of the biology of classic genetic diseases that were derived
from prior genetic studies. Chapters include biobanks and strategies for studying very rare
disorders genes and pathways causing primordial dwarfism and notch signaling in congenital
scoliosis and more.
