Biran-Gol Yael, Lerman-Sagie Tally, Lev Dorit, Malinger Gustavo, Schweiger Avraham, Davidovitch Michael
Behavioral Science Department, Academic College Tel Aviv.
Harefuah. 2010 Jan;149(1):41-4, 62, 61.
Macrocephaly is defined as an enlargement of the head circumference above the 98th percentile or greater than two standard deviations above the mean normalized for age and gender. The diagnosis of enlarged head circumference can be made by ultrasound, during pregnancy. This condition may be caused by enlargement of any of the head's compartments. When resulting from excessive brain tissue, the condition is defined as megalencephaly. Macrocephaly can be associated with many genetic disorders. Emphasis is placed on its outcome. Although the literature concerning macrocephaly and its neurodevelopmental features is vast, there is no general consensus concerning its outcome. Several studies claim macrocephaly is usually a benign, familial condition without any clinical significance, while others claim an association between macrocephaly and learning and attention difficulties, visuo-motor problems and expressive and receptive deficits. Based on these reports, concerning macrocephaly identified in utero, doctors find it difficult to assess prognosis and provide clear guidelines for parents.
巨头畸形的定义是头围增大超过第98百分位数,或高于根据年龄和性别校正后的均值两个标准差以上。在孕期可通过超声诊断头围增大。这种情况可能由头部任何一个腔室的增大引起。当由脑组织过多导致时,这种情况被定义为巨脑症。巨头畸形可与许多遗传疾病相关。重点在于其预后。尽管关于巨头畸形及其神经发育特征的文献众多,但对于其预后尚无普遍共识。一些研究称巨头畸形通常是一种良性的家族性情况,没有任何临床意义,而另一些研究则称巨头畸形与学习和注意力困难、视觉运动问题以及表达和接受能力缺陷之间存在关联。基于这些报告,对于产前诊断出的巨头畸形,医生很难评估预后并为家长提供明确的指导方针。