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The Bedside Dysmorphologist



Rok: 2007
ISBN: 9780195300451
OKCZID: 110144914

Citace (dle ČSN ISO 690):
REARDON, William. The bedside dysmorphologist: classic clinical signs in human malformation syndromes and their diagnostic significance. New York: Oxford University Press, 2008. vi, 306 stran.


Anotace

 

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.


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