The title is the siren's call! One slim volume to bring the practicing
orthopaedist up to speed in the most exciting area of modern medicine! Alas,
it is not that simple. This volume is one of a series of "genetics for
the `X'(cardiologist, dermatologist, etc.)" published by Remedica. The
basic problem, to my mind, is that there is not yet a coherent story linking
genes, diseases, and pathogenesis except for a group a very rare Mendelian
disorders. The pathomechanics of these disorders are not clearly worked out in
most cases. All attempts such as this one consist of illustrative vignettes
and assume some level of knowledge of molecular genetics and biology. But do
not quit reading. This monograph is in many ways an admirable and useful
attempt. It is short, concise, well illustrated, and full of educational
pearls. Each disorder is discussed in a well-organized and pithy fashion.
The introduction includes the obvious rationale for the series: to update
out-of-date and busy orthopaedic surgeons. It includes four web sites that are
useful sources of information with respect to molecular genetics. The preface
promises more than this volume or any such volume can deliver at the present
time: "...this short text has been focused to provide a practical and
comprehensible guide to the current state of the art with emphasis on how
progress in genetics has impinged, and shall increasingly impinge..." on
orthopaedics. Although true, this book presumes more knowledge than most
orthopaedic surgeons will have and covers disorders that few will ever see in
clinical practice.
The first section of the book is entitled "Primary Disorders of
Skeletal Development" and covers mostly skeletal dysplasias. That these
rare disorders dominate a book covering the present knowledge of genetics in
orthopaedics is no surprise. Disorders of single genes cause comprise the
majority of disorders for which the cause is known. It is unclear why the
author included skeletal dysplasias for which the genetic cause is unknown,
such as spondylometaphyseal dysplasia. Their inclusion makes this section
appear to be a treatise on selected skeletal dysplasias rather than an update
on the genetic causes of orthopaedic disorders. Furthermore, organizing this
section alphabetically by disorder name, rather than grouping different
disorders caused by allelic mutations, results in some difficulty in finding
useful information. For example, the author presents a nice diagram of the
FGFR3 (fibroblast growth factor receptor 3) gene with the common sites of
mutations causing achondroplasia, hypochondroplasia, and thanatophoric
dysplasia in the subsection on thanatophoric dysplasia near the end of the
first section.
The second section is entitled "Syndromes with Skeletal
Involvement" and covers cleidocranial dysostosis, Kniest dysplasia,
Larsen syndrome, and nail-patella syndrome, among others. The reasons for
separating these disorders from those in the first section are not always
clear, but doing so does break up a rather lengthy list of rare diseases.
The third section, "Multifactorial Disorders," discusses neural
tube defects, osteoarthritis, and osteoporosis. Both osteoarthritis and
osteoporosis are covered in three pages—the same number of pages as the
subsection on trichorhinophalangeal syndrome and one page less than the
subsection on Stickler syndrome. A more detailed discussion of these disorders
and future possibilities for greater understanding and better treatment would
have been welcome.
The appendix consists of a discussion of two gene families (the collagens
and the fibroblast growth factor receptors) and a third gene (the diastrophic
dysplasia sulfate transporter gene) that cause several allelic disorders. An
excellent discussion of the biology and pathobiology of these genes and their
mutations is followed by tables on related disorders. I recommend reading this
section before the first two sections on specific disorders to help to
organize one's understanding of the allelic disorders presented.
After three pages of abbreviations comes the crown jewel of the entire
book—the glossary. The glossary comprises fifty-two pages of definitions
of basic and complex ideas in modern molecular genetics, from autosomal
dominant inheritance through anticipation to zippering. This
excellently-written and well-illustrated glossary is worth the price of the
book for anyone looking for a reference that will help him or her to
understand molecular genetics. Some knowledge of genetics, but not a lot, is
required for many the concepts.
In summary, this is not a book for practicing orthopaedic surgeons. It is a
book for many pediatric orthopaedists and other orthopaedists with an interest
in genetics. Every residency program should have a copy as a quick and easy
reference. I anticipate that the future iterations of this effort will present
a more cogent and available story for a wider range of orthopaedic surgeons as
our knowledge of the genetic bases of complex disorders expands.