The primary care physician's approach to congenital anomalies.
Children with congenital anomalies often represent a special diagnostic and management challenge. To provide optimal care for these children, one must employ a systematic approach to identify the likely pathogenic mechanism leading to the birth defects present. Determining how distinct anomalies relate to one another may lead to elucidation of a specific genetic etiology for the patient's condition. Genetic testing is increasingly available to allow for diagnostic confirmation. Using this systematic approach to a child with congenital anomalies permits accurate prognostic and recurrence risk counseling, informed management decisions, and the appropriate allocation of social support and medical resources.
Falk
Marni J
MJ
Departments of Genetics and Pediatrics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, 11100 Euclid Avenue, Lakeside 1500, Cleveland, OH 44106, USA.
Robin
Nathaniel H
NH
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000628:therapy; D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000628:therapy*; D020732:Cytogenetic Analysis / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D011320:Primary Health Care; D013577:Syndrome