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38 Possible Causes for Agenesis of Corpus Callosum, Dysplasia of the Cerebellar Hemispheres

  • Aicardi's Syndrome

    Aicardi's syndrome, which is characterized by agenesis of the corpus callosum, specific chorioretinal abnormalities, and defects of vertebrae and ribs, is considered a probable[ncbi.nlm.nih.gov] Abstract Aicardi's syndrome is the association of three main features: infantile spasms, chorioretinopathia with lacunae and agenesis of the corpus callosum.[ncbi.nlm.nih.gov] A 12-year-old mentally handicapped female has all the characteristics of the syndrome: agenesis of the Corpus callosum; female infant with mental handicap, epilepsy, characteristic[ncbi.nlm.nih.gov]

  • Dandy-Walker Syndrome

    Obstetric ultrasound and fetal MRI studies showed hydrocephalus, agenesis of the cerebellar hemispheres, vermian hypoplasia, cystic dilatation of the 4(th) ventricle, enlargement[allmedx.com] Cranial ultrasonogram and computed tomography scan showed Dandy-Walker syndrome, agenesis of corpus callosum and hydrocephalus.[ncbi.nlm.nih.gov] We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy-Walker syndrome and agenesis of the corpus callosum.[ncbi.nlm.nih.gov]

  • Aprosencephaly and Cerebellar Dysgenesis

    Each fetus had complete absence of the telecephalon and pyramidal tracts, rudimentary diencephalic and mesencephalic structures, primitive cerebellar hemispheres, posterolateral[ncbi.nlm.nih.gov] Disorders of Midline Prosencephalic Development: Agenesis of Corpus Callosum Anomalous development of the 3 telencephalic commissures (corpus callosum, anterior commissure[sites.google.com] A classification proposed by Patel S in 2002 [5] divides cerebellar malformations in two broad groups; those with cerebellar hypoplasia and; those with cerebellar dysplasia[en.wikipedia.org]

  • Aqueduct of Sylvius Anomaly

    The Dandy-Walker complex encompasses a range of hypoplasia or dysplasia of the cerebellar hemispheres and/or vermis which can be found in patients with numerous diagnoses[appliedradiology.com] Disorders of prosencephalic midline development, agenesis of the corpus callosum, agenesis of septum pellucidum, and septo-optic dysplasia, usually have less severe presentations[obgyn.mhmedical.com] Hydrocephalus is also sometime associated with agenesis of the corpus callosum - where the membrane that divides the two hemispheres of the brain does not form.[fetalhydrocephalus.com]

  • Polymicrogyria

    MalaCards based summary : Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome An important gene associated with Microcephaly-Polymicrogyria-Corpus Callosum Agenesis[malacards.org] The hippocampus was preserved and the cerebellar cortex normal but there was dentato-olivary dysplasia.[doi.org] MRI showed agenesis of corpus callosum (ACC), an interhemispheric cyst, periventricular nodular heterotopia (PVNH), and extensive left frontal polymicrogyria (PMG).[ncbi.nlm.nih.gov]

  • Epidermal Nevus Syndrome

    Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.[ajnr.org] T1- and T2-weighted images revealed diffuse cerebellar dysplasia, mainly of the left hemisphere and the vermis, with abnormal folia and fissure patterns, and cortical polymicrogyria[em-consulte.com] Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. Am J Med Genet 1995;56:147-50. 6.[annalsofian.org]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    hemispheres Atrophy Preterm disruption, PCH Dysplasia CMD Hypoplasia DWM, PCH Cerebral atrophy AGS, CNCL, CS Dentate nuclei T2-hyperintense signal Krabbe Global cerebellar[cerebellumandataxias.biomedcentral.com] .  Congenital CNS anomalies  Agenesis of the cerebellar vermis  Agenesis of the corpus callosum  Encephalocele  Macrogyria  Porencephaly  Schizencephaly 14.[slideshare.net] […] of the corpus callosum 14722918 CACNA1A Epileptic encephalopathy, hemiplegic migraine 11342703 CDKL5 Severe early onset epileptic encephalopathy - usually girls, boys even[tests.labmed.washington.edu]

  • Congenital Cystic Eyeball

    (b) Coronal T2-weighted MR image shows cerebellar hypoplasia, multiple bilateral subcortical cysts in the cerebellar hemispheres (arrow), cerebellar dysplasia, generalized[pubs.rsna.org] The cerebrocutaneous abnormalities consisted of agenesis of the corpus callosum, mid-brain deformity, malformed sphenoid bone, right upper eyelid coloboma, and a left periocular[jamanetwork.com] Salty Toe Length Ratio Unibrow Wake-Up Time Widow's Peak ARSACS 1 variant in the SACS gene; relevant for French Canadian descent Agenesis of the Corpus Callosum with Peripheral[23andme.com]

  • Hereditary Cerebellar Degeneration

    After this division, malformation can be further classified as focal (localized to either a single hemisphere or the vermis) or generalized (involved both cerebellar hemispheres[ajnr.org] The Andermann syndrome: Agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuropathy.[collections.lib.utah.edu] Dandy Walker is often accompanied by other malformations, the most common of which is agenesis of the corpus callosum.[dizziness-and-balance.com]

  • Complex Cortical Dysplasia with other Brain Malformations Type 3

    The Dandy-Walker complex encompasses a range of hypoplasia or dysplasia of the cerebellar hemispheres and/or vermis which can be found in patients with numerous diagnoses[appliedradiology.com] Of The Corpus Callosum And Arachnoid Cysts CMCS DFNB82 604213 Genetic Test Registry Cortical Dysplasia, Complex, With Other Brain Malformations 1 0 CDCBM1 0 614039 Genetic[ukgtn.nhs.uk] Patients with agenesis of the corpus callosum may have no neurological problems.[jnnp.bmj.com]

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