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KMID : 1189120080050020094
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대한의학유전학회지
2008 Volume.5 No. 2 p.94 ~ p.99
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Clinical Approaches to Patients with Congenital Malformations
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Lee Jin-Sung
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Abstract
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Congenital malformation is identified in about 2-5% of newborns and a leading cause of infant mortality. The prognosis of malformations are mainly determined by proper treatment followed by correct diagnosis in early age. In practice, etiological consideration and classification of the malformation is critical for diagnosis. Malformation can be classified as those are belonged to minor or major anomalies. It is also clinically important to clarify the pathogenesis of the anomalies among malformation, deformation, disruption and dysplasia. Genetic counseling contain the process to help the patient or family members to understand the nature of the malformation and risk assessment.
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KEYWORD
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congenital, anomaly, etiology, counseling
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