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Poorly formed metencephalon

MedGen UID:
870504
•Concept ID:
C4024951
•
Anatomical Abnormality
HPO: HP:0007027

Definition

A morphological abnormality of the metencephalon. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPoorly formed metencephalon

Conditions with this feature

Aprosencephaly cerebellar dysgenesis
MedGen UID:
330459
•Concept ID:
C1832412
•
Disease or Syndrome
A rare genetic non-syndromic central nervous system malformation with characteristics of absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.
See: Condition Record
Aprosencephaly cerebellar dysgenesis

Recent clinical studies

Etiology

Monstrous, crablike hypertrophy of the cerebellar vermis and its relationship with Lhermitte-Duclos disease. Case report.
de León GA, Grant JA, Darling CF
J Neurosurg 1996 Jul;85(1):157-62. doi: 10.3171/jns.1996.85.1.0157. PMID: 8683267
A Golgi study of cerebellar malformation in 13 trisomy.
Ferrer I, Ribalta T, Fabregues I, Pineda M, Cusi V
Clin Neuropathol 1986 Mar-Apr;5(2):53-9. PMID: 2423283

Diagnosis

Report of two Turkish infants with Norman-Roberts syndrome.
Caksen H, Tuncer O, Kirimi E, Fryns JP, Uner A, Unal O, Cinal A, Odabaş D
Genet Couns 2004;15(1):9-17. PMID: 15083694
Monstrous, crablike hypertrophy of the cerebellar vermis and its relationship with Lhermitte-Duclos disease. Case report.
de León GA, Grant JA, Darling CF
J Neurosurg 1996 Jul;85(1):157-62. doi: 10.3171/jns.1996.85.1.0157. PMID: 8683267

Therapy

Heat Shock Protein Beta-1 Modifies Anterior to Posterior Purkinje Cell Vulnerability in a Mouse Model of Niemann-Pick Type C Disease.
Chung C, Elrick MJ, Dell'Orco JM, Qin ZS, Kalyana-Sundaram S, Chinnaiyan AM, Shakkottai VG, Lieberman AP
PLoS Genet 2016 May;12(5):e1006042. Epub 2016 May 6 doi: 10.1371/journal.pgen.1006042. PMID: 27152617Free PMC Article

Prognosis

The cerebellum does more than sensory prediction error-based learning in sensorimotor adaptation tasks.
Butcher PA, Ivry RB, Kuo SH, Rydz D, Krakauer JW, Taylor JA
J Neurophysiol 2017 Sep 1;118(3):1622-1636. Epub 2017 Jun 21 doi: 10.1152/jn.00451.2017. PMID: 28637818Free PMC Article
Monstrous, crablike hypertrophy of the cerebellar vermis and its relationship with Lhermitte-Duclos disease. Case report.
de León GA, Grant JA, Darling CF
J Neurosurg 1996 Jul;85(1):157-62. doi: 10.3171/jns.1996.85.1.0157. PMID: 8683267

Clinical prediction guides

The cerebellum does more than sensory prediction error-based learning in sensorimotor adaptation tasks.
Butcher PA, Ivry RB, Kuo SH, Rydz D, Krakauer JW, Taylor JA
J Neurophysiol 2017 Sep 1;118(3):1622-1636. Epub 2017 Jun 21 doi: 10.1152/jn.00451.2017. PMID: 28637818Free PMC Article
GABAergic immunoreactivity is predominant in neurons derived from expanded human neural precursor cells in vitro.
Jain M, Armstrong RJ, Tyers P, Barker RA, Rosser AE
Exp Neurol 2003 Jul;182(1):113-23. doi: 10.1016/s0014-4886(03)00055-4. PMID: 12821381

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