Rhombencephalosynapsis: Fused cerebellum, confused geneticists. Issue 4 (22nd December 2018)

• Record Type: Journal Article
• Authors: Aldinger, Kimberly A.; Dempsey, Jennifer C.; Tully, Hannah M.; Grout, Megan E.; Mehaffey, Michele G.; Dobyns, William B.; Doherty, Dan
• Other Names: Boycott Kym guestEditor.; Innes Micheil guestEditor.; Dyment David guestEditor.
• Is Part Of: American journal of medical genetics. Volume 178:Issue 4(2018)
• Page Start: 432
• Page End: 439
• Publication Date: 2018-12-22
• Subjects: cerebellum -- genetics -- neuroimaging -- RES; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31666
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract : Rhombencephalosynapsis (RES) is a unique cerebellar malformation characterized by fusion of the cerebellar hemispheres with partial or complete absence of a recognizable cerebellar vermis. Subsets of patients also have other brain malformations such as midbrain fusion with aqueductal stenosis, characteristic craniofacial features (prominent forehead, flat midface, hypertelorism, ear abnormalities), and somatic malformations (heart, kidney, spine, and limb defects). Similar to known genetic brain malformations, the RES cerebellar malformation is highly stereotyped, yet no genetic causes have been identified. Here, we outline our current understanding of the genetic basis for RES, discuss limitations, and outline future approaches to identifying the causes of this fascinating brain malformation.