Septo-optic dysplasia and associations with amyoplasia and gastroschisis

BACKGROUND: The causes of septo‐optic dysplasia, amyoplasia, and gastroschisis are mostly unknown.CASES:We present a patient with septo‐optic dysplasia and amyoplasia. We also present a patient with features of septo‐optic dysplasia, gray matter heterotopias, and gastroschisis.CONCLUSIONS:These previously unreported combinations provide further support for vascular disruption in embryonic or fetal life as an etiological factor in these conditions. Birth Defects Research (Part A)