ATLAS DER KLINISCHEN SYNDROME FÜR KLINIK UND PRAXIS

Hans-Rudolf Wiedemann and Jürgen KunzeSchattauer, Stuttgart–New York, 1996.

I am clearly biased to review the Atlas der Klinis-chen Syndrome. I have worked in the same Depart-ment of Human Genetics of the Free University ofBerlin as Prof. Kunze pursuing my M.D. degree. Thiswas followed by residency training in the Departmentof Pediatrics of the Christian-Albrechts-University inKiel, which Prof. Wiedemann headed until 1980. In ad-dition to having been trained by both authors, I clearlyremember a number of patients who are depicted inthe atlas.

This Atlas der Klinischen Syndrome by Wiedemannand Kunze is now available in its fourth revised Ger-man edition. Compared to the previous edition, 45 syn-dromes have been added for a total of 318. Inheritedand sporadic disorders are included, in addition tothose disorders caused by prenatal exposure to terato-gens or infections. A list of syndromes is given in thecontents, followed by a “diagnostic overview” groupingthe disorders under such headings such as “Syndromeswith craniofacial anomalies,” “Syndromes with tallstature,” “Syndromes with short stature,” etc. Thesetables and the thorough index in the back of the bookare extremely helpful in generating a differential diag-nosis.

Next is the atlas, with text on one side and up to 15beautiful illustrations for each particular syndrome onthe adjacent page. Mild malformations, minor anom-alies, and variants are discussed in relation to theirfrequency in all liveborn infants and their associationwith specific disorders. This section alone provides 66detailed illustrations. Following this part, well-definedsyndromes are arranged according to systems affected.The discussion usually includes synonyms, major char-acteristics and occasional findings, age of manifesta-tion, cause, frequency, prognosis, and differential diag-nosis. The illustration on the opposite page consists ofphotographs of the face, a full view, and details of allmajor findings, frequently hands and feet, radiographs

in selected cases, or even a blood smear in Chediak-Higashi syndrome or histological preparations as inABC syndrome. A reference list is included for most dis-orders. It is remarkable that some of the references areas recent as 1995, whereas the underlying gene muta-tion in a few others has not yet been included (e.g., mu-tations in the genes leading to campomelic dysplasiaand Lowe syndrome, respectively).

The book’s numerous, well-selected illustrations areamong its strong points. These become particularly im-portant in regard to the less well known syndromes in-cluded in this edition, e.g., the Floating-Harbor syn-drome. The detailed description of clinical findings, thephotographs of facial appearance and radiographsdemonstrating one of the hallmarks of this disorder(delayed bone age) will make readers aware of thisprobably underdiagnosed condition. However, some en-tries concern disorders that are so rare that no refer-ence can be given at all, apparently because only a sin-gle patient was seen by one of the authors and noadditional case reports have been published (e.g., cases143: joint dysplasia, short stature and erythema, 242:malformation syndrome with mental retardation, and277: malformation syndrome with cardiac anomalies).

Overall, this book gives an excellent, in-depth over-view of congenital and inherited syndromes. Its organi-zation makes it easy to use, whether one is looking forinformation on a specific syndrome or is working on adifferential diagnosis. The numerous illustrations areimmensely helpful to clinicians generating a diagnosis,teachers pointing out specific findings, and students at-tempting to memorize typical characteristics. Evenreaders who don’t know German will benefit from thisAtlas der Klinischen Syndrome. Hopefully, an Englishedition will become available soon.

This is a book that I recommend highly to every med-ical geneticist from beginner to the most experienced.

Maximilian MuenkeDivision of Human Genetics and Molecular BiologyThe Children’s Hospital of PhiladelphiaPhiladelphia, Pennsylvania

American Journal of Medical Genetics 69:342 (1997)

© 1997 Wiley-Liss, Inc.

Book Review