Dysmorphology diagnosis.
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.
Puri
Ratna Dua
RD
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.
Verma
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IC
D002648:Child; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005192:Family Health; D006801:Humans; D010375:Pedigree; D010808:Physical Examination; D013577:Syndrome