Book Review

LEXIKON DER SYNDROME UNDFEHLBILDUNGEN.

By R. Witkowski, O. Prokop, and E. UllrichSpringer-Verlag, 1995

This is the first edition of a classic compilation ofrecognizable syndromes and malformations in Ger-man. The book does not have an index and, therefore,entries cannot be sought under key words. The entriesare listed in alphabetical order, regardless of etiology,which makes the book suitable as a dictionary for quickreference on a given condition or syndrome. But youhad better know the German name, e.g., there is noentry for Turner syndrome. It is called Ullrich-Turnersyndrome, and for fragile-X syndrome one needs to lookunder Martin-Bell-Syndrome, although synonyms arelisted for many of the other syndromes. For those en-tries that are due to Mendelian abnormalities, McKu-sick’s Mendelian Inheritance in Man (MIM) numbersare provided for easy cross-referencing. A small num-ber of original literature references are provided for aselected number of entries. The entries range fromcommon disorders to esoteric conditions of which only afew cases have been reported. Among the common dis-orders listed are rheumatoid arthritis, essential hyper-tension, diabetes mellitus, cancer, and autoimmunedisease. These are large topics that can hardly be dealtwith adequately in dictionary format.

In keeping with the concept of a ‘‘lexicon’’ (dictio-nary), the entries are very concise and are organizedinto sections under standard subheadings. Each entrystarts with a descriptive sentence, including what isknown about the basic defect. The next section is called‘‘Krankheitswert’’ (disease value), which covers age ofonset and natural history. A section on ‘‘possibilities fortherapy’’ includes all types of symptomatic, dietary,and physical therapy, as well as information aboutspontaneous improvement. The next section lists thenumber of cases known, or incidence, as well as otherattributes, such as familial or sporadic. The sectioncalled ‘‘Genetics’’ includes modes of inheritance, het-erogeneity, linkage data, disease associations withmarkers, descriptions of and chromosomal or singlegene abnormalities.

The section entitled ‘‘Family Counseling’’ providesrecurrence risk figures, based on Mendelian ratios aswell as on empiric data, and recommendations for spe-cialist referrals and follow-up, as well as diagnostic anddifferential-diagnostic hints. It is noteworthy thatmany entries in this section contain judgmental state-ments. Judgment is made regarding the severity andburden of the clinical manifestations, the interpreta-tion of risk levels, and the advisability of marriage and

reproduction. For example, if a disorder is judged non-genetic or due to somatic mutations, it is stated thatthere are ‘‘no heredito-prognostic or family counselingconcerns,’’ sometimes worded as, ‘‘There is no need toadvise against having children.’’ Such statements im-ply that in other situations, advice against having chil-dren may well be given. The introductory Chapter 3explains that recurrence risk is judged to be high whenit is more than 10% and low when it is less than 1%,followed by the sentence, ‘‘Not in each case does onehave to advise against a planned marriage or againstplans to have children when a high risk is present.’’While the Introduction to Chapter 1 makes it clear thateugenic considerations would not play a role in familycounseling, the perceived responsibility of the physi-cian clearly includes the ‘‘prevention of suffering asso-ciated with the birth of a severely damaged child.’’Based on this attitude, it may not be surprising thatinstances of directive counseling can be found through-out the book. Historically, one should remember thatthis book was first developed in a communist, non-democratic society where the physician was a state em-ployee with responsibilities both to the parent and tothe community as a whole. In this society, individualswere likely to visit the genetics physician with the ex-pectation of being told what to do. If this book were tobe translated into English, all judgmental statementsand references to directive counseling would need to beremoved, as nondirective genetic counseling is gener-ally practiced in the free world.

Given the rapid development of new information inclinical and molecular genetics and clinical morphol-ogy, it is a daunting task to keep a compendium likethis up to date, especially for a small number of au-thors. Therefore, one cannot expect all entries to becorrect with respect to the latest information. Thisshould not be of concern, as long as the book is used inconjunction with other more detailed sources of infor-mation. On the other hand, if the amount of misinfor-mation were significant and practitioners chose to usethis book as their only reference, one might becomeconcerned. For example, the entry about Marfan syn-drome, a disorder this reviewer is quite familiar with,contains several statements that are not generally ac-cepted, and provides evidence of an uncritical citationof selected literature in the field.

The text is illustrated by numerous photographs, incolor or black and white, that are of excellent qualityand are previously unpublished, from the authors’ andcollaborators’ own collections. These are extremelyvaluable, given the rarity of some of the conditions.Several tables with differential diagnoses for catego-ries of disorders are also very useful, e.g., for lipidoses.

American Journal of Medical Genetics 78:395–396 (1998)

© 1998 Wiley-Liss, Inc.

There is definitely a place for such a lexicon amongthe reference material available to the clinical geneti-cist. It fills a unique niche as a quick guide to informa-tion that, if necessary, can be supplemented and up-dated by more extensive or on-line resources. If effortswere made to ensure the accuracy of all entries, thebook could also be recommended for primary care pro-viders who may be called upon to provide genetic coun-

seling in cases where referral to a trained genetic coun-selor is not possible or not deemed necessary.

Uta FranckeDepartment of GeneticsStanford University Medical CenterStanford, California

396 Francke