Classic Clinical Signs in Human Malformation Syndromes and Their Diagnostic Significance

Download The Bedside Dysmorphologist: Classic Clinical Signs in Human Malformation Syndromes and Their Diagnostic Significance PDF Free

Although it has not always been so, dysmorphology is nowadays well served with several fine books on the subject. Many of the leading practitioners of our discipline have committed their wisdom and experience to the page to the great benefit of their colleagues and admirers all around the world, not to mention the incalculable service to countless patients. Consequently, there exist now several reputable and authoritative texts and computerized databases on the diagnostic approach to the dysmorphic child, on summarized published information relating to individual syndromes, on classic examples of known syndromes, and on various other aspects of dysmorphology practice. Notwithstanding these considerable aids, reaching a specific diagnosis in the dysmorphic individual remains, for most of us, a formidable barrier. Embarking as a very junior trainee in clinical genetics almost 20 years ago, I often found myself confused as to what exactly constituted an abnormal clinical sign, so often the springboard to final diagnosis. The vivid admiration I harbored then for colleagues possessed of the clinical gifts and experience underlying the recognition of such signs still burns bright. Many of my early days in training were spent looking up articles in journals seeking that perfect demonstration of a seminal clinical sign as a means of clarifying my confused state of mind. This should not in any way reflect upon the mentoring offered to me, which could not have been bettered, but rather should reflect on my own inadequacies faced with the struggle to master the language, the literature, and the seemingly limitless variation in clinical subtlety with which human malformation syndromes are wont to clothe themselves. Although mastery has proven elusive, experience has offered both compensation and concern—compensation in that I have now learned enough to accept that nobody has all the answers in dysmorphology, but concern that the exact same problems that I personally recollect as a youthful trainee are still cited by young colleagues undertaking training in clinical genetics—for example, ‘‘How can I be sure if the ears are low set?’’ ‘‘Is it significant if there are deep plantar creases?’’ ‘‘What should I be thinking of if the patient has micropenis?’’ Experienced dysmorphologists will hear in these questions the panicky voice of inexperience, and their diagnostic insight is absolutely correct! However, other clinicians, and perhaps pediatricians above all others, will hear in these questions their own authentic voices, the concerns that bedevil their daily practices as they examine their patients, and wonder whether an individual has a dysmorphic sign suggestive of an underlying syndrome or not. It has surprised me that, in all the excellent dysmorphology books published over the last two decades, so little emphasis has been placed on assisting the nonspecialist, whether trainee geneticist, pediatrician, or other clinical colleague, to recognize dysmorphic signs and to understand their possible significance. It appears to me that the literature of clinical genetics and dysmorphology is now so sophisticated and well organized as to be quite daunting for most nonspecialists. Listening to pediatrician colleagues, I hear that the gulf between our specialty and our nongenetic colleagues can appear insurmountable, notwithstanding our shared interests in the diagnosis of and care for the malformed patient. This is the background to the concept of the book I wish to write—one that seeks to make the clinical signs of malformation and the reasoning process deriving from their observation less arcane than currently appears to be the case. For trainees in clinical genetics, there is an exigency to become comfortable with these concepts before progressing to a more advanced state of knowledge, while for nongeneticist colleagues, it is my hope that this book will answer some of the questions most frequently posed as to why genetic diagnoses may seem so inaccessibl

A highly illustrated field guide to dysmorphology, a key area of clinical genetics and a vital competency for all clinicians.

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The Bedside Dysmorphologist: Classic Clinical Signs in Human Malformation Syndromes and Their Diagnostic Significance

The Bedside Dysmorphologist: Classic Clinical Signs in Human Malformation Syndromes and Their Diagnostic Significance

 

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