Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1

Neuropediatrics 2021; 52(03): 227
DOI: 10.1055/s-0040-1722690

Videos and Images in Neuropediatrics

¹Department of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland

,

Katharina Steindl

²Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland

,

Raimund Kottke

³Department of Diagnostic Imaging, University Children's Hospital Zurich, Zurich, Switzerland

,

¹Department of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland

,

¹Department of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland

References
1 Dobyns WB, Aldinger KA, Ishak GE. et al; University of Washington Center for Mendelian Genomics, Center for Mendelian Genomics at the Broad Institute of MIT and Harvard. MACF1 mutations encoding highly conserved zinc-binding residues of the gar domain cause defects in neuronal migration and axon guidance. Am J Hum Genet 2018; 103 (06) 1009-1021
2 Rüsch CT, Bölsterli BK, Kottke R, Steinfeld R, Boltshauser E. Pontocerebellar hypoplasia: a pattern recognition approach. Cerebellum 2020; 19 (04) 569-582