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760 Possible Causes for Partial Agenesis of the Corpus Callosum

  • Amish Lethal Microcephaly

    agenesis of the corpus callosum 0001338 Progressive microcephaly Progressively abnormally small cranium Progressively abnormally small skull [ more ] 0000253 Showing of 33[rarediseases.info.nih.gov] At birth, the facial appearance and brain MRI scan were characteristic of MCPHA, with the additional features of partial agenesis of the corpus callosum and a closed spinal[ir.lib.uwo.ca] […] contracture Flexed joint that cannot be straightened 0001371 Lactic acidosis Increased lactate in body 0003128 Muscular hypotonia of the trunk Low muscle tone in trunk 0008936 Partial[rarediseases.info.nih.gov]

  • Roifman Syndrome

    The MRI revealed partial agenesis of the corpus callosum, bilateral hypoplastic hippocampi but bilaterally intact amygdala.[ncbi.nlm.nih.gov] Fairchild, Helen, Fairchild, Graeme, Tierney, Kevin, McCartney, Deborah, Cross, Justin and de Vries, Petrus (2011) Partial agenesis of the corpus callosum, hippocampal atrophy[eprints.soton.ac.uk] Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome.[cambridge.org]

  • Acrocallosal Syndrome

    Partial agenesis of the corpus callosum and central diffuse cortical cerebral atrophy was documented on computed tomography. Chromosomes were normal.[ncbi.nlm.nih.gov] […] of corpus callosum, polysyndactyly and mental retardation.[ncbi.nlm.nih.gov] These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis of the corpus callosum, polysyndactyly[ncbi.nlm.nih.gov]

  • Frontonasal Dysplasia

    agenesis of the corpus callosum, and endocrinological disturbances, including diabetes insipidus and pituitary dysfunction.[ncbi.nlm.nih.gov] Less frequent features include cleft lip palate, duplication of the thumbs or halluces, partial or complete agenesis of the corpus callosum and learning disability ( 3, 4[doi.org] […] cases of children, three males and three females, presenting with a sphenoethmoidal encephalocele, optic disc anomalies, midline facial clefting, hypertelorism, complete or partial[ncbi.nlm.nih.gov]

  • Aicardi's Syndrome

    A diagnosis of Aicardi's syndrome should include CT scan and/or pneumoencephalographic findings of partial or total agenesis of the corpus callosum and/or other anomalies[ncbi.nlm.nih.gov] Article Access Statistics Viewed 7530 Printed 200 Emailed 7 PDF Downloaded 290 Comments , 2 Orodental manifestations in cases with partial agenesis of corpus callosum-rare[neurologyindia.com] Aicardi syndrome: A genetic disorder characterized by the partial or complete agenesis of the corpus callosum (the structure that links the 2 hemispheres of the brain), infantile[medicinenet.com]

  • Juvenile Myoclonic Epilepsy

    Imaging of his brain revealed partial agenesis of the corpus callosum (ACC).[ncbi.nlm.nih.gov]

  • Septo-Optic Dysplasia

    An uncommon association of infantile spasms, septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst is described in a child.[ncbi.nlm.nih.gov] A retrospective MRI review of 17 patients with septo-optic dysplasia, ranging in age from 2 months to 17 years with equal gender ratio, demonstrated partial agenesis of the[medlink.com] Infantil spasms in patient with septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst. Clin Neurol Neurosurg 1992 ; 94 : 165-7.[em-consulte.com]

  • Pfeiffer-Palm-Teller Syndrome

    agenesis of the corpus callosum Abnormality of the cardiovascular system Flat occiput Pyloric stenosis Holoprosencephaly Spasticity Abnormal cardiac septum morphology Low-set[mendelian.co] agenesis of corpus callosum Partial atrioventricular canal Partial deletion of Y Partial gigantism in context of NF Partial lissencephaly Partington Anderson syndrome Partington[bioreference.net] Partial agenesis of corpus callosum[?] Partial atrioventricular canal[?] Partial deletion of Y[?] Partial gigantism in context of NF[?] Partial lissencephaly[?][encyclopedia.kids.net.au]

  • Autosomal Recessive Primary Microcephaly Type 10

    agenesis of the corpus callosum Hypermetropia Lissencephaly Heterotopia Pachygyria Sloping forehead Polymicrogyria Agenesis of corpus callosum Abnormal facial shape Coarctation[mendelian.co] […] of the body corpus callosum, cerebellar superior vermian hypoplasia with agenesis of the inferior vermis.[pubfacts.com] callosum, partial agenesis of, 304100 (3) L1CAM G:308840 Bell neurological Corpus callosum, partial agenesis of, 304100 (3) L1CAM G:308840 Bell neurological Corpus callosum[usegalaxy.org]

  • Sanjad-Sakati Syndrome

    Partial Agenesis of Corpus Callosum in Sanjad-Sakati Syndrome (p-ACC) To send this article to your Dropbox account, please select one or more formats and confirm that you[cambridge.org] .  central hypoventilation  obstructive sleep  Partial Agenesis of Corpus Callosum Eli Hershkovitz, Reli Hershkovitz, Lora Hertzug, Rafael Gorodischer, Moshe Mazor and[slideshare.net] agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). ( 23041407 ) 2012 23 Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes[malacards.org]

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