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.
Original language | English (US) |
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Pages (from-to) | 432-439 |
Number of pages | 8 |
Journal | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics |
Volume | 178 |
Issue number | 4 |
DOIs | |
State | Published - Dec 2018 |
Externally published | Yes |
Bibliographical note
Funding Information:information National Human Genome Research Institute, Grant/Award Number: U54HG006493; National Institute of Child Health and Human Development, Grant/Award Number: U54HD083091; National Institute of Neurological Disorders and Stroke, Grant/Award Number: R01NS050375
Publisher Copyright:
© 2018 Wiley Periodicals, Inc.
Keywords
- RES
- cerebellum
- genetics
- neuroimaging