Dysmorphology diagnosis
- PMID: 15226565
- DOI: 10.1007/BF02724297
Dysmorphology diagnosis
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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