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Fusion of the cerebellar hemispheres

MedGen UID:
356159
Concept ID:
C1866131
Finding
HPO: HP:0006899

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFusion of the cerebellar hemispheres

Conditions with this feature

Gomez Lopez Hernandez syndrome
MedGen UID:
163201
Concept ID:
C0795959
Disease or Syndrome
Gomez-Lopez-Hernandez syndrome (GLHS), also known as cerebellotrigeminal dermal dysplasia, is a rare neurocutaneous syndrome classically characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, often giving rise to corneal opacities, and bilateral parietal or parietooccipital alopecia. However, trigeminal anesthesia is an inconsistent finding (summary by Sukhudyan et al., 2010).

Professional guidelines

PubMed

Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2021 Dec;58(6):864-874. doi: 10.1002/uog.23660. PMID: 33942916

Recent clinical studies

Etiology

Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Peng J, Yao F, Li Q, Ge Q, Shi W, Su T, Tang L, Pan Y, Liang R, Zhang L, Shao Y
Sci Rep 2021 Jul 23;11(1):15059. doi: 10.1038/s41598-021-92281-1. PMID: 34301967Free PMC Article
Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2021 Dec;58(6):864-874. doi: 10.1002/uog.23660. PMID: 33942916
Calis F, Atilla H, Bingol Kiziltunc P, Alay C
Strabismus 2019 Dec;27(4):199-204. Epub 2019 Oct 22 doi: 10.1080/09273972.2019.1677729. PMID: 31637944
Yang F, Zhao J, Xu H
Biomed Res Int 2017;2017:5390839. Epub 2017 Jan 10 doi: 10.1155/2017/5390839. PMID: 28164124Free PMC Article

Diagnosis

Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2021 Dec;58(6):864-874. doi: 10.1002/uog.23660. PMID: 33942916
Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):432-439. doi: 10.1002/ajmg.c.31666. PMID: 30580482Free PMC Article
Yang F, Zhao J, Xu H
Biomed Res Int 2017;2017:5390839. Epub 2017 Jan 10 doi: 10.1155/2017/5390839. PMID: 28164124Free PMC Article
Demaerel P, Morel C, Lagae L, Wilms G
AJNR Am J Neuroradiol 2004 Jan;25(1):29-31. PMID: 14729524Free PMC Article

Therapy

Müngen E, Kurucu N, Kutluk T, Oğuz KK, Söylemezoğlu F, Yalçın B
Turk J Pediatr 2021;63(6):1084-1090. doi: 10.24953/turkjped.2021.06.018. PMID: 35023660
Peng J, Yao F, Li Q, Ge Q, Shi W, Su T, Tang L, Pan Y, Liang R, Zhang L, Shao Y
Sci Rep 2021 Jul 23;11(1):15059. doi: 10.1038/s41598-021-92281-1. PMID: 34301967Free PMC Article
Yang F, Zhao J, Xu H
Biomed Res Int 2017;2017:5390839. Epub 2017 Jan 10 doi: 10.1155/2017/5390839. PMID: 28164124Free PMC Article
Pasquier L, Marcorelles P, Loget P, Pelluard F, Carles D, Perez MJ, Bendavid C, de La Rochebrochard C, Ferry M, David V, Odent S, Laquerrière A
Acta Neuropathol 2009 Feb;117(2):185-200. Epub 2008 Dec 5 doi: 10.1007/s00401-008-0469-9. PMID: 19057916
Michaud J, Mizrahi EM, Urich H
Acta Neuropathol 1982;56(3):161-6. doi: 10.1007/BF00690631. PMID: 7072487

Prognosis

Müngen E, Kurucu N, Kutluk T, Oğuz KK, Söylemezoğlu F, Yalçın B
Turk J Pediatr 2021;63(6):1084-1090. doi: 10.24953/turkjped.2021.06.018. PMID: 35023660
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT
Brain 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379. PMID: 31834374Free PMC Article
Calis F, Atilla H, Bingol Kiziltunc P, Alay C
Strabismus 2019 Dec;27(4):199-204. Epub 2019 Oct 22 doi: 10.1080/09273972.2019.1677729. PMID: 31637944
Yang F, Zhao J, Xu H
Biomed Res Int 2017;2017:5390839. Epub 2017 Jan 10 doi: 10.1155/2017/5390839. PMID: 28164124Free PMC Article
Lassaletta A, Zapotocky M, Bouffet E, Hawkins C, Tabori U
Childs Nerv Syst 2016 Oct;32(10):1789-97. Epub 2016 Sep 20 doi: 10.1007/s00381-016-3163-6. PMID: 27659822

Clinical prediction guides

Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2021 Dec;58(6):864-874. doi: 10.1002/uog.23660. PMID: 33942916
Jayakody H, Zarei S, Nguyen H, Dalton J, Chen K, Hudgins L, Day J, Withrow K, Pandya A, Teasley J, Dobyns WB, Mathews KD, Moore SA
J Neuropathol Exp Neurol 2020 Sep 1;79(9):998-1010. doi: 10.1093/jnen/nlaa062. PMID: 32827036Free PMC Article
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT
Brain 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379. PMID: 31834374Free PMC Article
Calis F, Atilla H, Bingol Kiziltunc P, Alay C
Strabismus 2019 Dec;27(4):199-204. Epub 2019 Oct 22 doi: 10.1080/09273972.2019.1677729. PMID: 31637944
Demaerel P, Morel C, Lagae L, Wilms G
AJNR Am J Neuroradiol 2004 Jan;25(1):29-31. PMID: 14729524Free PMC Article

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