Visual clues to diagnosis of birth defects and genetic disease.
Congenital defects and inheritable diseases are a leading cause of childhood morbidity and death. Often these conditions have associated visual diagnostic clues that lead the clinician to a diagnosis and thus earlier preventive treatment of associated complications. Pediatric nurse practitioners can broaden their visual senses by reviewing pictorial compendiums of pediatric disease to gain experience in visual recognition and having a keen eye while examining patients. This article identifies by category and pictorial illustration several birth defects and genetic disorders that are readily identified by observation. Even minor anomalies may portend significant underlying internal problems.
Wardinsky
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D000014:Abnormalities, Drug-Induced / Q000175:diagnosis; D000015:Abnormalities, Multiple / Q000175:diagnosis; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000175:diagnosis*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013577:Syndrome