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Definitive Diagnosis of Mongolism in Newborn Infants by Chromosome Studies

Chi Hao Lee, M.D.; Werner Schmid, M.D.; Priscilla M. Smith, B.A.
JAMA. 1961;178(10):1030-1032. doi:10.1001/jama.1961.73040490020015.
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PROBABLY the most widely held belief regarding mongoloids is that "they all look alike; if you have seen one, you have seen them all." It is certainly true that a majority of cases of mongolism do present a characteristic picture allowing diagnosis to be made from observation alone. But the fact is that mongoloids do not all look or behave alike. The characteristic features are not always present and are not always clear-cut. The greatest difficulty arises in the neonatal period, when diagnostic signs are few and vague and when behavioral patterns and performance levels cannot be appraised properly. It is during this period that clinical judgment may fail, regardless of past experience. Various authors1-3 have observed that many cases of mongolism have been either missed or misdiagnosed in the newly born infant. Within this age group, diagnosis based on physical examination is not always reliable; and yet this


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