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From The CriticsReviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: This is a pocket-sized clinical guide to dysmorphologic symptoms that establishes a correlation between clinical observations and their presentation in common clinical disorders. It is descriptive in nature and provides excellent photographic documentation of clinical features commonly seen by dysmorphologists.
Purpose: The author wants to help clinicians understand the significance of human variation in relation to disease. He summarizes the classic clinical signs in human malformation syndromes and their diagnostic significance. He has done an excellent job of providing a consultation pocket guide that can be carried by clinicians in their daily practice.
Audience: This is an excellent tool for dysmorphologists. Although the author directs this work at early practitioners of genetics, this is a modest but remarkable tool for experienced clinical geneticists as well. Primary care providers may find the information helpful to differentiate between normal features and clinical signs of underlying syndromic disorders. Medical students and physicians in training also would find it useful.
Features: It is organized in anatomic order from head to toe and it describes the most common and obvious observational clinical patterns of dysmorphology. Each entry includes a discussion of the clinical significance associated with pathology or normal variation of the human form. All entries are well documented and include excellent photographic examples.
Assessment: Although there are multiple clinical genetics manuals, Dr. Reardon's work sets itself apart because of its portability. This is an accessible pocket manual that avoids complicated algorithms and is easy to understand. It is a unique contribution with high practical utility for daily use by all clinicians involved in the field of dysmorphology.