Book review

LES MALADIES OSSEUSES DE L'ENFANT. Quatrième édition. Pierre Maroteaux et Martine Le Merrer avec collaboration de Clément Fauré et Claude Fessard de Foucault. Médicine-Sciences Flammarion. Paris, 2002. XIV + 682 (incl. index). Paper cover.

BONE DYSPLASIAS—AN ATLAS OF GENETIC DISORDERS OF SKELETAL DEVELOPMENT. 2nd edition. By Jűrgen W. Spranger, Paula W. Brill, and Andrew Poznanski, editors. Oxford University Press; Urban und Fischer Verlag. Oxford, Műnchen, 2002. XVII + 613 (incl. index). Hard cover.

It is an exceptional pleasure to greet the almost simultaneous publication by the acknowledged masters in the field of their masterpieces, the fourth edition of the Maroteaux skeletal disorders of childhood (now joined by co-author Martine Le Merrer, and two other major collaborators), and the long-awaited second edition of the former Spranger–Langer–Wiedemann treatise on skeletal dysplasias, now with co-authors Paula Brill and Andrew Poznanski. The former was first published in 1974, the latter in the same year; the former was regularly updated every 5–8 years; but because of retirements and incapacitation the latter took much longer to be revised, and it was an event worth waiting for. Pierre Maroteaux most graciously sent an autographed copy of his oeuvre as a 2002 Christmas gift; it took 8 months for the review copy of the Spranger et al. book to arrive from the Oxford University Press. Hence, this delayed review.

Readers will ask—can't I just get along with the Spranger book—why is it recommended (strongly) to have both? The answer is that the Maroteaux and Le Merrer volume includes sections or bone biology and pathology not contained in the one by Spranger et al.

Thus, let us first look at the Spranger book. In large size (28 × 20 cm) format with 1,890 figures of uniformly excellent to outstanding quality, it includes a succinct, but accurate outline of the biologic nature of skeletal dysplasias (now defined as [generalized] skeletal defects due to mutated signaling genes) and the dysostoses (now defined as more localized defects of bone development due to transient defects in expression of signaling factors during embryogenesis).

The ordering of the material still follows a phenotypic approach, however, a close reading shows, that whenever known, the genetic and molecular aspects are discussed succinctly and accurately in situ, an immense aid to genetic diagnosis and counseling. Wherever one looks in the book, one sees evidence of the Spranger gift to group pathogenetically related entities into what he first called “families,” a concept extensively validated by molecular methods. The references show dramatically how this complex and extraordinarily interesting field of biology has been enriched by a few insightful pioneers beginning with Lamy and Maroteaux, McKusick, Wiedemann, Silverman, Dorst, Neuhauser, Langer, Spranger, Rimoin, and Lachman among others, working singly or in collaboration. This book is an atlas with major emphasis on illustrations complemented by a concise, well-organized introductory text usually of no more than 1–2 pages with a few critical references. It includes no histology or any other metabolic diseases of bone. This is an intensely practical book, and no clinical/medical geneticist can do without it.

Neither without the Maroteaux-Le Merrer text, also a lifetime distillation of wisdom and massive experience with much greater emphasis on bone biology.

Chapter 1 defines bone, presents skeletal development and ossification, and its anatomical, histologic, chemical, and mineralogical aspects.

Chapter 2 addresses pre- and post-natal bone growth and the growth characteristics of individual parts of the skeleton including long bones, craniofacial region, pelvis, vertebrae and ribs, endocrine, metabolic and mineralogical factors involved in bone growth, and methods of measuring growth.

Some 300 pages are devoted to the constitutional anomalies of bone, almost 100 to the metabolic disorders of bone, and 5 detailed chapters deal with secondary skeletal involvement.

Chapter 12 addresses acquired bone diseases: infections, mycoses, syphilis, rubella, other viruses, sarcoidosis, non-accidental trauma, etc. The last three chapters deal with the bone tumors. A 4-page table lists all of the genes known to be involved in skeletal development and its abnormalities based on the Genatlas database of Frézal et al. (www.dsi.univ-paris5.fr/genatlas).

This is, in fact a textbook, but profusely illustrated; the 18 × 26 cm format and manner of reproduction sometimes impairing the quality and effectiveness of the iconography. Each section is provided with an extensive bibliography. The Maroteaux and Le Merrer book has a much more detailed index than that of Spranger et al.—hardly a problem for those mastering the texts—a most worthwhile effort in both instances. Both books celebrate the cultural diversities that have been so characteristic over the last 200 years of the history of Western biomedicine which has been immensely enriched by it.