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21 Possible Causes for Agenesis of Corpus Callosum, Asymmetric Brain Development, Dysmorphic Face

  • Fetal Alcohol Syndrome

    One of them showed agenesis of the corpus callosum and hypoplasia of the cerebellar vermis.[ncbi.nlm.nih.gov] We report the unique neuropathologic study of an adult brain of a patient with fetal alcohol syndrome who developed the well-recognized complication of schizophrenia in adolescence[ncbi.nlm.nih.gov] […] of the corpus callosum), facial changes (short palpebral fissures, low nasal bridge, anomalies of the auricle, maxillary hypoplasia, cleft lip and palate) and organ anomalies[ncbi.nlm.nih.gov]

  • Craniosynostosis

    Intracranial anomalies include megalocephaly, hypoplastic white matter, and agenesis of the corpus callosum, leading to cognitive impairment.[aafp.org] […] intracranial pressure (pressure inside the skull) which can cause delays in development or permanent brain damage if not corrected Will my child need surgery?[kyplastics.com] Syndromic craniosynostosis is associated with various dysmorphisms involving the face, skeleton, nervous system, and other anomalies and is usually accompanied by developmental[ncbi.nlm.nih.gov]

  • Macrocephaly

    For example, see agenesis of the corpus callosum and osteogenesis imperfecta in the last section.[medfriendly.com] Multiple brain anomalies have been described including cortical atrophy, dilated and asymmetrical ventricles, and mild hydrocephalus.[disorders.eyes.arizona.edu] We present three cases of overgrowth syndrome with common features of macrocephaly, capillary malformation, dysmorphic face and abnormal neurocognitive profile.[ncbi.nlm.nih.gov]

  • Salti-Salem Syndrome

    callosum agenesis * Corpus callosum agenesis double urinary collecting * Corpus callosum agenesis neuronopathy * Corpus callosum agenesis of blepharophimosis Robin type *[medicalgeek.com] The intracranial pressure can be elevated if cysts develop in the brain. Migraine -like headaches can occur.[en.wikipedia.org] face pelvic scapula dysplasia Short stature heart defect craniofacial anomalies Short stature hyperkaliemia acidosis Short stature locking fingers Short stature mental retardation[en.wikipedia.org]

  • Chudley-McCullough Syndrome

    Postnatal brain imaging findings include ventriculomegaly, partial agenesis of corpus callosum, inferior cerebellar dysplasia, arachnoid cysts, and malformations of cortical[ncbi.nlm.nih.gov] […] malformations of CMS are due to defects in asymmetric cell divisions during development.[ncbi.nlm.nih.gov] […] and neuropathy Multiple congenital anomalies (MCA) Congenital contractures of the limbs and face (CLIFAHDD) Multiple congenital anomalies (MCA) Congenital disorder of glycosylation[genomediagnosticsnijmegen.nl]

  • Coats Plus Syndrome

    Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations.[ghr.nlm.nih.gov] The intracranial pressure can be elevated if cysts develop in the brain. Migraine-like headaches can occur.[en.wikipedia.org] X-linked dysmorphic syndrome with mental retardation. Clin Genet. 1987 Nov;32(5):326-34. PubMed PMID: 3121220. 416: Zolog N, Dressler S, Aconiu M.[de.slideshare.net]

  • Agenesis of the Corpus Callosum and Congenital Lymphedema

    TY - JOUR T1 - Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?[unboundmedicine.com] . / Brain & Development 25 (2003) 133136 135[4] Lahat E, Heyman E, Barkay A, Goldberg M.[dokumen.tips] It can include: long narrow face with facial dysmorphisms, congenital cataract, blepharophimosis, dental anomalies, syndactyly, cardiopathy, cleft palate, renal and genital[bredagenetics.com]

  • Ring Chromosome 15

    Furthermore agenesis of the corpus callosum is reported for the first time in 9p syndrome, 2.Ring chromosome 13 syndrome in an adult male with mild mental retardation ABSTRACT[matsuishi-lab.org] […] neural tube - development of brain and spinal cord -By cells in the limb bud - zone of polarizing activity - responsible for the asymmetrical pattern of digits within individuals[quizlet.com] face, upward slanting palpebral fissures, broad nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, caf -au-lait[chr7.org]

  • Neuronal Ceroid Lipofuscinosis

    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] At age 67, he had developed constructional apraxia, dysphagia, and impaired vertical eye movements.[ng.neurology.org] […] axonal neuropathy with respiratory failure Severe intellectual deficit and progressive spastic paraplegia Severe intellectual disability-poor language-strabismus-grimacing face-long[csbg.cnb.csic.es]

  • Rieger Syndrome

    Additional abnormalities include optic nerve head colobomas, microphthalmos, agenesis of the corpus callosum, seizures and retardation.[medical-dictionary.thefreedictionary.com] Only an association of asymmetric ASD with dental malformation and brain retardation has been linked to the isoform PITXc expression [ 28 ].[bmcophthalmol.biomedcentral.com] The most characteristic non-ocular findings are mild craniofacial dysmorphism, dental anomalies and redundant periumblical skin.[orpha.net]

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