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皮质发育畸形（MCD)主要包括局灶性皮质发育障碍、前脑无裂畸形（HPE)、室周异位症（PH)、小头畸 形（MCPH)、巨脑回畸形、无脑回畸形等。Some hedgehog (Shh)是最著名的HPE致病翻，可抑制患儿腹神经管 的发育，导致中枢神经系统及颜面畸形。PH的发病与细丝蛋白A、二磷酸腺苷基化因子鸟嘌呤核苷酸交换因子2 及多聚谷氨酰胺结合蛋白1等基因突变有关,可导致Shh信号通路传导异常，导致神经异位结节的产生。MCPH基 因SIL / STIL与Shh信号通路密切相关。Shh突变及其下游效应器的突变可导致Femgold综合征，Shh信号缺失可 导致胚胎期腹侧端脑发育紊乱。Jouber综合征相关致病基因的突变与Shh信号异常传导相关联，Shh信号缺失最 终导致神经管背部和闭合缺陷、脑畸形、后肢畸形等脑发育异常。 [ABSTRACT FROM AUTHOR]

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