선천성 기형의 발달생리학

• 영문명: The developmental biology of birth defect
• 발행기관: 대한의학유전학회
• 저자명: 홍용희(Yong Hee Hong) 이동환(Dong Hwan Lee)
• 간행물 정보: 『대한의학유전학회지』제5권 제1호, 1~6쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2008.06.30

영문 초록

Knowledge of developmental biology is essential for clinicians who seek to develop a rational approach to the diagnostic evaluation of patients with birth defects. After an accurate diagnosis, a clinician can make predictions about prognosis, recommend management options, and provide an indication of recurrence risk for the parents and relatives. In this paper, we first review the basic mechanisms of embryological development and clinical dysmorphology. We then review cellular and molecular mechanisms in development and related congenital anomalies. Developmental anomalies have a major impact on public health. Genetic counseling and prenatal diagnosis, with the option to continue or to terminate a pregnancy, are important for helping families faced with the risk of a serious congenital anomaly in their offspring. Moreover, primary prevention of birth defects, for example, supplementation of prenatal folic acid and prevention of consumption of alcohol which has teratogenic effects, can be accomplished using developmental biology knowledge.

목차

서론

임상 이상형태학

발생생물학과 인간 발생

발달에 작용하는 기본적인 기전들과 선천성 기형

발생유전학의 임상적 이용과 공중 보건

참고문헌

키워드

Birth defects Developmental genetics