Benjamin Kamien1, Andreas Zankl, Michael Gabbett. 1. The Royal Brisbane and Women's Hospital, Queensland, Brisbane, Australia. benkamien@yahoo.com.au <benkamien@yahoo.com.au>
Abstract
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. 2010 Wiley-Liss, Inc.
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. 2010 Wiley-Liss, Inc.
Authors: Kaylee B Park; Teresa Chapman; Kimberly A Aldinger; Ghayda M Mirzaa; Jordan Zeiger; Anita Beck; Ian A Glass; Robert F Hevner; Anna C Jansen; Desiree A Marshall; Renske Oegema; Elena Parrini; Russell P Saneto; Cynthia J Curry; Judith G Hall; Renzo Guerrini; Richard J Leventer; William B Dobyns Journal: Am J Med Genet A Date: 2020-11-18 Impact factor: 2.802