New Syndromes and Modern Genetics

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Abstract
A congenital syndrome is generally considered to be a constellation of abnormalities due to a single developmental or genetic defect. An excellent approach to the analysis of syndromes has been presented by Opitz et al.1 and deserves careful study when an apparently new constellation of abnormal findings is described. It is often difficult to be certain how many similar cases must be found before coincidence can be ruled out. This is particularly true if one of the major findings (e.g., mental retardation) is relatively common. Clearly, one must be careful not to include as part of the syndrome the finding . . .