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