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It is a frequent and often frustrating experience for physicians working with individuals with mental retardation to observe the occurrence of facial peculiarities along with other physical anomalies and to have the impression that the patient "should fit into some syndrome." Until the clinician has had personal experience with a particular syndrome, it is often difficult for him to be reasonably certain that the particular patient represents a well described entity that can and should be appropriately labeled; or whether the patient presents, as he often does, an isolated, unique, and perhaps fortuitous group of findings. For many of the defined syndromes, the diagnosis still rests mainly on visual inspection; however, for some syndromes, certain laboratory aids are available to help confirm the diagnosis. The importance of syndrome identification goes far beyond its frequent use in "one upsmanship" on ward rounds, and, as stated by the authors in the introduction,
RUBINSTEIN JH. Atlas of Mental Retardation Syndromes, Visual Diagnosis of Facies and Physical Findings. Am J Dis Child. 1969;118(6):938–939. doi:10.1001/archpedi.1969.02100040940027
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