Summary

Through four popular editions, this unique text has been the only comprehensive reference to examine the clinical and radiologic manifestations of all known congenital syndromes, metabolic disorders, and skeletal dysplasias. Short, concise descriptions of entities help you glean the most information in the least time, and an alphabetical organization expedites access to the specific information you need for common and uncommon conditions. Provides several illustrative examples of the evolution of a syndrome from infancy to adult life. Presents genetic information on syndromes and disorders, while also covering a number of non-genetic entities. Includes a section on Gamuts that helps you look up conditions based on individual traits. Contains new and expanded coverage of CT, MRI, and ultrasonographic manifestations. Includes more than 100 new skeletal dysplasias, covering everything from their frequency and clinical and radiological manifestations...to modes of inheritance and differential diagnosis. Offers an updated Brachydactyly section for the latest guidance in addressing these isolated disorders. Features an expanded Chromosome disorders section that includes guidance on when to test for these conditions.