Article ID Journal Published Year Pages File Type
10163070 Pediatria Polska 2008 9 Pages PDF
Abstract
A patient with dysmorphic features and mental retardation poses a diagnostic dilemma to the pediatrician. There are more than 2500 of such rare and difficult to diagnose conditions. This report describes the optimal clinical evaluation of a dysmorphic child. Relevant details in the history and examination, important investigations, and other techniques used to evaluate the etiology of a malformation syndrome are described.
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