Norman M G, Roberts M, Sirois J, Tremblay L J
Can J Neurol Sci. 1976 Feb;3(1):39-46. doi: 10.1017/s0317167100025981.
The first reported case of lissencephaly resulting from a consanguinous union strengthens the supposition that in some cases, it is transmitted as an autosomal recessive trait. Comparison of this case with a sporadically occurring case of lissencephaly, with different cortical morphology, suggests that lissencephaly may be an example of either varying gene expressivity or genetic heterogeneity. Lissencephaly and pachygyria may eventually be shown to be due to different causes, some inherited, some acquired. The classical examples of lissencephaly are different morphologically from a case in which antenatal cytomegalovirus infection had produced a small smooth brain. This suggests that antenatal viral infections are destructive rather than teratogenic.
首例因近亲结婚导致无脑回畸形的病例强化了这样一种推测，即在某些情况下，它作为常染色体隐性性状遗传。将该病例与一例散发的无脑回畸形病例（具有不同的皮质形态）进行比较，提示无脑回畸形可能是基因表达变异或遗传异质性的一个例子。无脑回畸形和巨脑回可能最终会被证明是由不同原因引起的，有些是遗传的，有些是后天获得的。经典的无脑回畸形例子在形态上与一例因产前巨细胞病毒感染导致脑小且平滑的病例不同。这表明产前病毒感染具有破坏性而非致畸性。
