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Rhombencephalosynapsis: Fused cerebellum, confused geneticists
Author(s) -
Aldinger Kimberly A.,
Dempsey Jennifer C.,
Tully Hannah M.,
Grout Megan E.,
Mehaffey Michele G.,
Dobyns William B.,
Doherty Dan
Publication year - 2018
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31666
Subject(s) - cerebellum , craniofacial , anatomy , cerebellar vermis , macrocephaly , neuroscience , medicine , biology , pathology , genetics
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.