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.
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.
Marni J
MJ
Falk
Nathaniel H
NH
Robin
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