Abnormal skeletal phenotypes: from simple signs to complex diagnoses

When one is asked to review a manuscript in order of the different parts of the skeleton and comprises to write a foreword,one always asks oneself,“Is there about 600 pages. anything special about this book?”“Does it supply The reader will ?nd something about the in- us with unique information?”I hesitate to think how dence, anatomic location, pathogenesis, differential many years ago it was when I ?rst discussed with diagnosis, diagnostic relevance, and, if known, Dr. Alessandro Castriota-Scanderbeg the possible the pattern of inheritance.This approach to the s- publication of this book. It may well have been a ject, which is essentially symptom-based, contrasts decade ago. I seem to remember that I encouraged markedly with the conventional texts that either s- him to write a text that was truly different from the tematically report a given disorder or list the features classic ones. that form a gamut. That this most remarkable ?rst edition is unique is In addition, the authors provide a second part of easily illustrated. I have personally picked an area I 300 pages in which they cover approximately 100 am less familiar with. In Chap. 2,“The Thorax,”the syndromes, congenital anomaly syndromes, skeletal following sections are covered: embryology of the dysplasias, and chromosomal disorders to aid in thorax, abnormal shape and size of the chest, small major differential diagnosis. Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age.