REVIEW
Dysmorphology demystified
1 National Centre for Medical Genetics, Our Lady’s Hospital for Sick Children, Crumlin, Dublin 12
2 Academic Unit of Medical Genetics, St Mary’s Hospital, Hathersage Rd., Manchester M13 OJH
Correspondence to:
Correspondence to:
Dr. William Reardon
National Centre for Medical Genetics, Our Lady’s Hospital for Sick Children, Crumlin, Dublin 12; willie.reardon@olhsc.ie
Accepted 31 October 2006
| The first 150 words of the full text of this article appear below. |
Every doctor likes to make a good diagnosis. If the condition in question is rare, so much the better—at least in terms of professional satisfaction. No branch of medicine affords more opportunity for the diagnosis of rare disorders than clinical genetics. In this specialty the individual rarity of specific conditions, combined with the idealistic, ill comprehended nature of "gestalt" (pattern recognition) diagnosis, can create lifelong impressions in young colleagues who witness such diagnostic feats. It is self evident that the dysmorphic patient often reveals the best and the worst of humankind in doctors. Keen to reach a diagnosis, well balanced, confident physicians can be both brilliant in their recognition of the disorder and considerate towards the patient and family, controlling the all too human temptation to show off to colleagues in such situations. Conversely, those of us who daily meet such patients and their families are familiar with tales of
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