Abnormal Skeletal Phenotypes: From Simple Signs to Complex Diagnoses (2005.)

This book focuses on the radiographic changes of malformation syndromes and skeletal dysplasias.

It is structured such that the reader can identify the radiographic changes and relate them to specific disease entities.

The aim is to provide an essential, practical guideline to the recognition of the key radiographic signs for diagnosing malformation syndromes and skeletal dysplasias.

The book is intended for radiologists, clinical and medical geneticists, and pediatricians.

The material is divided into two parts. The first part is structured in a symptom-oriented form and describes approximately 200 radiographic signs, providing information about their incidence, anatomic location, diagnostic relevance, pathogenesis, and pattern of inheritance, if applicable.

The second part presents about 100 syndromes and skeletal dysplasias and provides analytical information concerning symptoms, genetics, causes, radiographic appearance, and major differential diagnosis.