There are thousands of recognized congenital syndromes and sequences that have major impact on the conduct of an anesthetic. When faced with a child with an unusual syndrome, even the most experienced pediatric anesthesiologist often needs a source to consult about the multisystem ramifications that can influence the anesthetic plan. In my experience, there are four major references that can provide quick and comprehensive information and that I recommend in this situation.
First is the Online Mendelian Inheritance in Man Web site (omim.org), an encyclopedic and comprehensive compendium of virtually everything that is known about all genetic syndromes. It includes links to every published article in the medical literature and a “clinical synopsis” that lists the prominent features of each syndrome in outline form. Although it is incredibly complete, well indexed and hyperlinked, and has extensive search capability, it unfortunately contains no pictures illustrative of the conditions, and anesthesia-specific information is often buried in the details and not readily apparent.
Second is Smith’s Recognizable Patterns of Human Malformation,1 the classic text originally authored by David Smith, a pioneer in dysmorphology, and now in its 7th edition. It is lavishly illustrated and is compiled in an easy-to-use outline form with extensive indexes and cross-indexes by syndrome, symptom, and physical finding. However it, too, lacks anesthesia specificity and detail.
Finally are two books by prominent pediatric anesthesiologists that seek to address the limitation of the previous references with regard to anesthesia specificity: Bruno Bissonnette’s Syndromes: Rapid Recognition and Perioperative Implications2 and Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood by Victor Baum and Jennifer O’Flaherty, which is now available in a new 3rd edition. This ambitious but concise encyclopedia provides a short description of virtually every syndrome a clinician is likely to encounter and concludes each synopsis with the details of its specific anesthetic implications. Equally important, of course, is that it specifies when there are no particular anesthetic considerations for a syndrome. New to this edition is the inclusion of an e-book bundled in the purchase price of the text (and apparently not available separately) that is accessible either online using a password supplied with the book or via smartphone or tablet. This greatly enhances the usefulness of the text when faced with a syndromic patient who presents emergently when one does not have immediate access to the library. There are numerous photographs, some in color, which illustrate the morphological features of many of the syndromes. The book is extensively indexed and cross-indexed, an essential tool because of the plethora of synonyms and eponyms that have proliferated over the years for many of these conditions. The book is organized in alphabetical order (by the most common name of each syndrome) making locating the syndrome of interest quick and easy, and the search engine of the e-book is effective and complete.
I used the new edition of Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood over a period of 2 to 3 months whenever I encountered a child with a syndrome and compared its content with that of the aforementioned alternative references. Baum and O’Flaherty’s text provided accurate and up-to-date descriptions of all the common and rare conditions I encountered and also comprehensively noted the anesthetic considerations for each. Most of the photographs were well chosen to be illustrative of a given syndrome although not all were pediatric specific (one might consider this both an advantage and disadvantage, depending on your patient). The references almost always included anesthetic specific citations although due to the limitations in the published literature these were often case reports rather than studies. The references in the e-book are unfortunately not hyperlinked to PubMed or full text. The appendices include several schematics of the biochemical pathways that lead to various inborn errors of metabolism, such as those of steroid synthesis, amino acids, glycogen, and the urea cycle; however, neither the content nor the intent of this book is to provide the reader with a comprehensive understanding of pathogenesis or morphogenesis. For that reason, a complete preoperative evaluation of a complex syndromic patient might include a visit to either the Online Mendelian Inheritance in Man Web site or the primary literature to develop a more in-depth understanding. In a few cases (Potter sequence, for example), the term “syndrome” is misused interchangeably with “sequence,” although in most other places (e.g., Klippel–Feil sequence), the correct usage is used.
In conclusion, I found Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood to be an exceedingly valuable tool for the clinician when presented with a patient with a congenital syndrome, providing a comprehensive review of clinical findings and the pertinent anesthetic implications. It compares very favorably with the equally excellent and comprehensive text by Bissonnette, while adding e-book functionality at considerably lower cost. I highly recommend it for the pediatric anesthesiologist and as a valuable addition to the departmental library of any anesthesia practice that cares for children or adults with congenital disorders.