The Bedside Dysmorphologist

The aim of this text is to provide practical advice for the paediatrician on the common dilemma: does the presence of a birth defect indicate an underlying syndrome? High-quality colour illustrations of an exhaustive range of signs, and clear, concise text descriptions help identify these malformations and determine their clinical significance.

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Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardon's new text is to provide a practical solution to this situation. In a format using a high-quality colour illustration of the most common and most elusive signs on the left-hand page and clear, concise text descriptions on the right, Reardon will create a unique and helpful guide to identifying these malformations and determining their clinical significance. Willie Reardon, a veteran OUP author and eminent dysmorphologist, is well-suited to write such a book, which will appeal to a wide audience of pediatricians, geneticists, genetic counselors, and embryologists.