Rhombencephalosynapsis: Fused cerebellum, confused geneticists

Kimberly A. Aldinger; Jennifer C. Dempsey; Hannah M. Tully; Megan E. Grout; Michele G. Mehaffey; William B. Dobyns; Dan Doherty

doi:10.1002/ajmg.c.31666

Rhombencephalosynapsis: Fused cerebellum, confused geneticists

Kimberly A. Aldinger, Jennifer C. Dempsey, Hannah M. Tully, Megan E. Grout, Michele G. Mehaffey, William B. Dobyns, Dan Doherty

Research output: Contribution to journal › Review article › peer-review

25 Scopus citations

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)
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	https://doi.org/10.1002/ajmg.c.31666
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

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10.1002/ajmg.c.31666

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title = "Rhombencephalosynapsis: Fused cerebellum, confused geneticists",

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.",

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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: {\textcopyright} 2018 Wiley Periodicals, Inc.",

year = "2018",

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pages = "432--439",

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T2 - Fused cerebellum, confused geneticists

AU - Aldinger, Kimberly A.

AU - Dempsey, Jennifer C.

AU - Tully, Hannah M.

AU - Grout, Megan E.

AU - Mehaffey, Michele G.

AU - Dobyns, William B.

AU - Doherty, Dan

N1 - 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.

PY - 2018/12

Y1 - 2018/12

N2 - 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.

AB - 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.

KW - RES

KW - cerebellum

KW - genetics

KW - neuroimaging

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ER -

Rhombencephalosynapsis: Fused cerebellum, confused geneticists

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