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Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
- Source :
-
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2018 Dec; Vol. 178 (4), pp. 432-439. - Publication Year :
- 2018
-
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.<br /> (© 2018 Wiley Periodicals, Inc.)
Details
- Language :
- English
- ISSN :
- 1552-4876
- Volume :
- 178
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part C, Seminars in medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 30580482
- Full Text :
- https://doi.org/10.1002/ajmg.c.31666