Limb Malformations: An Atlas of Genetic Disorders of Limb Development

Congenital malformations are a major health problem in western societies. They can occur for various reasons ranging from genetic causes in monogenetic and polygenetic conditions to maternal infections and the teratogenic effects of drugs. In many cases, the cause of the malformation remains unknown.

Limb malformations occur at a relatively high frequency and can often be associated with other abnormalities as part of a syndrome. In other cases, they occur as an isolated trait affecting only the limbs. The phenotype of limb malformations is extremely heterogeneous and even among genetically determined conditions a wide variability exists. This often makes an accurate diagnosis difficult. Therefore, one aim of this atlas is to present a comprehensive overview of limb malformation phenotypes in order to provide the clinician with a tool that facilitates the diagnostic process.

With the enormous recent advances in molecular and developmental biology, the genetic basis of many limb malformations and their relationship to each other has been elucidated. Another aim of this atlas is thus to provide the reader with a basic understanding of the molecular pathology of these conditions.

The book is extensively illustrated with clinical photos and radiographs of conditions or groups of related conditions on one page plus a clinical summary and, if known, the molecular basis of the conditions on the opposite page.