Dysmorphology diagnosis.
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2004-06-01
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Abstract
A patient with multiple malformations poses a diagnostic dilemma to the pediatrician. There are thousands of malformation syndromes described and diagnosis of a syndrome appears a daunting task. An approach to diagnosis of a malformation syndrome is presented. Relevant details in the history and examination, important investigations, the process of differential diagnosis, and search engines used to aid in diagnosis of a malformation syndrome are described.
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Puri RD, Verma IC. Dysmorphology diagnosis. Indian Journal of Pediatrics. 2004 Jun; 71(6): 535-9