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Abstract：
Microcephaly is defined by an occipital-frontal head circumference (OFD) 2 standard deviations (SD) smaller than the average expected for age, gender and population. Its incidence has been reported between 1.3 and 150 cases per 100,000 births. Currently, new clinical characteristics, causes and pathophysiological mechanisms related to microcephaly continue to be identified. Its etiology is varied and heterogeneous, with genetic and non-genetic factors that produce alterations in differentiation, proliferation, migration, repair of damage to deoxyribonucleic acid and neuronal apoptosis. It requires a multidisciplinary diagnostic approach that includes a medical history, detailed prenatal and postnatal clinical evaluation, cerebral magnetic resonance imaging, neuropsychological evaluation, and in some cases complementary tests such as metabolic screening, tests to rule out infectious processes and genetic testing. There is no specific treatment or intervention to increase cerebral growth; however, timely intervention strategies and programs can be established to improve motor and neurocognitive development, as well as to provide genetic counseling. The objective of this work is to review the available information and reinforce the proposal to carry out an etiopathogenic approach for microcephaly diagnosis and management.
摘要：
小头畸形的定义是枕骨额头围（OFD）2个标准偏差（SD）小于年龄预期的平均值，性别和人口。据报道，其发病率为每100,000名婴儿1.3至150例。目前,新的临床特征，与小头畸形相关的原因和病理生理机制仍在继续被确定。其病因多样、异质性,遗传和非遗传因素导致分化改变，扩散,迁移,脱氧核糖核酸损伤修复和神经元凋亡。它需要包括病史在内的多学科诊断方法，详细的产前和产后临床评估，脑磁共振成像，神经心理学评估，在某些情况下，补充测试，如代谢筛查，排除感染过程的测试和基因测试。没有特定的治疗或干预来增加大脑生长;然而，可以建立及时的干预策略和计划来改善运动和神经认知发育，以及提供遗传咨询。这项工作的目的是审查现有信息，并加强对小头畸形的诊断和管理进行病因致病方法的建议。
