Publication: Syndrome diagnosis on the ward The difficulty to classify complex dysmorphic syndromes on the ward
Syndrome diagnosis on the ward The difficulty to classify complex dysmorphic syndromes on the ward
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Schinzel, A. (2009). Syndrome diagnosis on the ward The difficulty to classify complex dysmorphic syndromes on the ward. European Journal of Human Genetics, 17, 1525.
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The Bedside Dysmorphologist. Classic Clinical Signs in Human Malformation Syndromes and Their Diagnostic Significance Edited by William Readon
Reviewed by Albert Schinzel.
When confronted with a newborn with multiple congenital developmental defects including a pattern of dysmorphic signs, the clinical dysmorphologist is challenged to find the correct diagnosis out of some 1500 syndromes, if possible directly at the ward. As we unfortunately do not have unlimited memory capacity, we have to evaluate the clinical findings and then g
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Schinzel, A. (2009). Syndrome diagnosis on the ward The difficulty to classify complex dysmorphic syndromes on the ward. European Journal of Human Genetics, 17, 1525.
