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Syndromes: Rapid Recognition and Perioperative Implications is the ultimate reference for anesthesiologists, surgeons, internists, pediatricians, emergency physicians, and nurses caring for patients affected with special operative needs and acute medical care. This updated reference book provides a complete A-to-Z encyclopedic clinical presentation of more than 2,200 syndromes. Extensive cross-referencing of international synonyms, classifications, and other conditions to be considered in the differential diagnosis further expands coverage to more than 5,000 entries.

It is the most comprehensive reference on the subject. The presence of this icon “☞” preceding the name of a syndrome can be seen within the text or especially in the section called: “Other conditions to be considered.” It indicates that this medical condition is also fully described as a main entry in the book, in its alphabetical order. Most syndromes are presented following 14 subdivisions that consist of:


At a glance: Clinical information, providing most valuable clinical knowledge of the medical condition, especially with emphasis on the most important features for safe management.


Synonyms: A list of synonyms for each syndrome, facilitating identification of the same medical condition when called differently in other parts of the world.


History: First recognition or description of the disease, with names, dates, and other pertinent information when available.


Incidence: An indication of the population most affected, international distribution, and most recent number of cases reported in the literature to date is given. The prevalence of the disease is also mentioned whenever known.


Classification: This is a very important subdivision, where special efforts have been made to ensure a clear description of medical conditions associated with multiple subtypes. In most cases, a complete description of all subtypes is presented following the name of each classified condition or within the text of this main syndrome in a more relevant description.


Genetic inheritance: Current knowledge about the genetic basis of the syndrome is provided, with the locus of the gene, inheritance pattern and causes for the development of this medical condition.


Pathophysiology: The underlying mechanisms potentially involved in each syndrome are described.


Diagnosis: Radiological and laboratory findings to help the user in the rapid recognition of each medical condition. Differential diagnoses may also be included in this section or as part of the section called: “Other conditions to be considered.”


Clinical aspects: A description of the clinical characteristics facilitating the confirmation of the diagnosis is provided, with an emphasis on the most frequent physical features and the main physiological/organ systems affected.


Precautions before anesthesia: Recommendations on medical consultations, preoperative radiographs, functional and laboratory tests potentially needed before conducting anesthesia.


Anesthetic considerations: Specific perioperative considerations, such as indications for premedication, airway management, vascular access, postoperative ventilation, etc. The emphasis is based on the prevention of complications. This section is not intended to be the guideline for the conduct of anesthesia but rather a list of considerations to help clinician adapt their anesthetic technique and the intraoperative and postoperative management the safest possible in patients with special needs.


Pharmacological implications: Information about pharmacological interactions and potential contraindications associated with the use of specific medications are presented.


Other conditions to be considered: A list (with synonyms) of potentially related medical conditions detailed that could, from their clinical similarity with the main syndrome described, be considered as alternate diagnosis. Information pertinent to the specific physical features associated with these conditions should help clinicians establish their differential diagnosis and provide the best care possible for affected individuals.


References: Most pertinent references are provided for further consultation.

Some syndromes described in this book are either extremely rare or not congenital in nature. However, we found it worthwhile to have them included in the text since we considered the information either important or interesting, or sometimes both.

The index (see How to Use the Index) has been simplified in the Second Edition to ensure that readers can access rapidly relevant clinical information.

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