Lorber J, Priestley B L
Dev Med Child Neurol. 1981 Aug;23(4):494-504. doi: 10.1111/j.1469-8749.1981.tb02023.x.
Among 557 children who presented a diagnostic problem of a large head, 109 had megalencephaly as the primary diagnosis. A clinical approach to the differentiation of this numerically important group from the various other causes of large head is outlined. The group is characterised by a familial incidence of large head in at least 50 per cent of cases; a male to female preponderance of four to one; an above-normal rate of head growth in 80 per cent of the children in the first four months after birth, and in a further 12 per cent in late infancy. The vast majority of these children were normal. Only seven children were retarded, and they also had a variety of neurological and other somatic abnormalities.
在557名存在大头诊断问题的儿童中，109名的主要诊断为巨脑症。本文概述了一种临床方法，用于将这一数量可观的群体与大头症的其他各种病因相区分。该群体的特征包括：至少50%的病例有大头症家族发病率；男女比例为4比1；80%的儿童在出生后的前四个月头部生长速度高于正常水平，另有12%在幼儿晚期头部生长速度高于正常水平。这些儿童中的绝大多数是正常的。只有7名儿童智力发育迟缓，他们还伴有各种神经和其他躯体异常。
