Can Fam Physician. 1988 Apr;34:909-13.
Genetic disorders in the neonate should be suspected in a number of different clinical situations, ranging from that of an infant with dysmorphic features and multiple congenital malformations to that of a previously well newborn who becomes acutely ill. An approach for the primary-care physician to the initial investigation and management of these situations is outlined. In addition neonatal screening tests for metabolic disorders and congenital hypothyroidism are briefly discussed.
新生儿的遗传疾病应在多种不同的临床情况下被怀疑,从具有畸形特征和多种先天性畸形的婴儿到之前健康的新生儿突然患病的情况都有。本文概述了初级保健医生对这些情况进行初步调查和管理的方法。此外,还简要讨论了新生儿代谢疾病和先天性甲状腺功能减退症的筛查试验。