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畸形学:针对患有结构缺陷儿童的一种研究方法。

Dysmorphology: an approach to a child with structural defects.

作者信息

Jones K L

出版信息

Curr Probl Pediatr. 1978 Jan;8(3):1-42. doi: 10.1016/s0045-9380(78)80026-7.

Abstract

An approach to children with structural defects has been presented. The ultimate goal of this approach is a specific overall diagnosis. In such cases appropriate genetic counseling for the parents, accurate prognostication relative to the child's future development and an appropriate plan to help the child reach his potential usually are possible. When an overall diagnosis is lacking, the most that can be expected is a better understanding of the nature and onset of the problem. That in itself can often be helpful to patients and to all others dealing with children having structural defects.

摘要

本文提出了一种针对患有结构缺陷儿童的方法。这种方法的最终目标是做出具体的全面诊断。在这种情况下,通常可以为父母提供适当的遗传咨询,对孩子未来的发展做出准确的预后评估,并制定适当的计划以帮助孩子发挥其潜力。当缺乏全面诊断时,所能期望的最多是对问题的性质和发病情况有更好的了解。这本身往往对患者以及所有与患有结构缺陷的儿童打交道的其他人都有帮助。

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