The Bedside Dysmorphologist by Dr. William Reardon is a great book about diagnosing malformation syndromes at the bedside. It is only about 300 pages long, but it is packed with essential clinical pearls.
Unlike other books in the field which break things down by syndromes, this book delves into the differential diagnosis based on clinical presentations. For example, suppose one comes across an infant with webbing of the neck, what should one do about it? Answer: the differential diagnosis includes Turner syndrome and Noonan syndrome. These patients should get an echocardiogram to evaluate for coarctation of the aorta (Turner syndrome) and for pulmonic valvular stenosis (Noonan syndrome). And in case you were wondering what the “buzz-phrase” webbing of the neck actually means and how to distinguish it from a neck which is simply on the short side: “Neck webbing refers to redundant skin at the back and side of the neck…. In contrast to a short neck, it is possible to palpate the folds of excess skin between the fingers.” (p. 128). Priceless!
The book was published in 2008, so the science might have changed since then, although probably not by much.
It is really lamentable that with the advent of online publishing and the general erosion of bedside diagnostic skills, books like this are becoming harder to create, publish and find. Either way, it’s a stellar book, and I recommended it very highly to anyone who is involved in the care of pediatric patients.
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