Preface to the Fifth Edition
It has been over 30 years since the publication of the first
edition of this book in 1975. Over the years there has been
amazing progress in the fields of medical imaging, syndro-
mology, metabolic disorders, and skeletal dysplasias. Even
more recently the explosion in the field of molecular biology
and gene identification has made the subjects covered in this
edition even more exciting. I have tried to incorporate as
much of this into the text as possible.
The first edition of the book covered about 540 entities.
In the second edition, about 700 subjects were discussed. By
the third edition nearly 1000 syndromes, metabolic disor-
ders, and skeletal dysplasias were included. The fourth edi-
tion contained over 1000 fully described entities as well as
1250 entries in abbreviated form included in a gamuts sec-
tion. The gamuts references numbered about 1800.
The third and fourth editions were divided into three
separate chapters (Syndromes, Metabolic Disorders, and
Skeletal Dysplasias). For the reader’s convenience, I have
chosen to abridge this edition into two main sections with
both syndromes and metabolic disorders alphabetically in
one section and the skeletal dysplasias in a separate section.
I hope this will make usage of the text easier.
This fifth edition contains 120 new fully described entries,
including both entities and tables. There are about 90 new
syndromes and metabolic disorders and 35 new skeletal dys-
plasias. To make the text more user-friendly for the geneticist
as well as the radiologist and clinician, I have included the
OMIM number for appropriate entries.
The gamuts section has also been significantly
improved and expanded with the addition of a searching
CD included with this edition to allow searches using
several symptoms or signs to narrow the search to a smaller
number of entities, whether they are common, uncommon,
or rare. The gamuts section has been increased so that
there are over 22,500 entries and over 4500 gamuts-related
references.
The fifth edition also contains some new tables,
including the overall radiographic expression of the
entire group of mucopolysaccharidoses/mucolipidoses
(dysostosis multiplex) and the general radiographic expres-
sion of chromosome abnormalities. A number of new tables
regarding groups of important mutational disorders are also
found.
In this edition the articles are cited not only by the
author’s name, but also the publication year, which will
make it easier to find specific references.
Appendix A contains the most recent Nosology and
Classification of Genetic Disorders of Bone (Skeletal
Dysplasias). In Appendix B, I have included a chapter on the
radiographic approach to the skeletal dysplasias, which
should be valuable to the novice as well as to those taking
board examinations.
I hope that these changes will make the text more user-
friendly for all of us.
Ralph S. Lachman, M.D.
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