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337 Possible Causes for Absent / Hypoplastic Corpus Callosum, Agenesis of Corpus Callosum

  • Acrocallosal Syndrome

    hypoplastic corpus callosum associated with MED[ 10 ], subsequently assigned OMIM entry (%607131).[] The diagnosis of acrocallosal syndrome was arrived at after neuroimaging showed agenesis of corpus callosum with interhemispheric cysts.[] The affected family members showed macrocephaly, an absent or hypoplastic corpus callosum and facial dysmorphism, but no polydactyly and only mild or absent intellectual disability[]

  • Miller Dieker Syndrome

    The proband was determined at birth owing to the presence of multiple congenital anomalies, including low birth weight, microcephaly, agenesis of the corpus callosum, lissencephaly[] Another study also reported lissencephaly and agenesis of the corpus callosum on CT imaging.[] […] of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the[]

  • Frontonasal Dysplasia

    We describe a boy with frontonasal "dysplasia"; cerebral anomalies, including agenesis of corpus callosum and probable Dandy-Walker malformation (absent superior vermis, hypoplastic[] Our series also had a high frequency of patients with agenesis of the corpus callosum (12 cases), basal encephalocele (10 cases), lipoma of the corpus callosum (four cases[] We have therefore observed combined clinical characteristics of: absent corpus callosum; cleft palate and lip; sphenoethmoidal encephalocele; and pituitary problems in association[]

  • Isolated optic nerve hypoplasia

    […] infundibulum, partial or complete absence of septum pellucidum and corpus callosum.[] Tang PH, Bartha AI, Norton ME et al (2009) Agenesis of corpus callosum: an MR imaging analysis of associated abnormalities in the fetus.[] […] of the corpus callosum, dysplasia of the anterior third ventricle, and anomalies of the hypothalamic-pituitary axis.[]

  • Roy-Maroteaux-Kremp Syndrome

    OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor GLUT1 Deficiency Syndrome GLYCOSYLPHOSPHATIDYLINOSITOL[] […] of the Corpus Callosum Hypomagnesemia, Seizures, and Mental Retardation hypoparathyroidism-retardation-dysmorphism syndrome hypoplastic left heart syndrome Hypospadias-Mental[] Syndrome Gilles de la Tourette syndrome Gillespie Syndrome Gingival Fibromatosis with Hypertrichosis and Mental Retardation Gitelman syndrome GLOBAL DEVELOPMENTAL DELAY, ABSENT[]

  • Dandy-Walker Syndrome

    .  Vermis severely hypoplastic or absent. 9.[] Cranial ultrasonogram and computed tomography scan showed Dandy-Walker syndrome, agenesis of corpus callosum and hydrocephalus.[] We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy-Walker syndrome and agenesis of the corpus callosum.[]

  • Septo-Optic Dysplasia

    callosum in 15, agenesis of the septum pellucidum in 11, bilateral optic nerve hypoplasia in 16, hypoplastic anterior pituitary in 5, ectopic neurohypophysis in 8, absent[] An uncommon association of infantile spasms, septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst is described in a child.[] In a discrete number of cases, schizencephaly, agenesis of the corpus callosum or other cortical malformations are associated (SOD-plus).[]

  • Congenital Optic Disc Coloboma

    Morning glory disc is associated with coloboma-renal sysndrome, trisomy 4q, optic nerve hypolasia and poor vision, midline intracranial malformations (agenesis of the corpus[] […] infundibulum, partial or complete absence of septum pellucidum and corpus callosum.[] Associations CHARGE syndrome encephalocoele agenesis of the corpus callosum Jacobsen syndrome Treacher-Collins syndrome : rare Roberts syndrome : rare Gorlin-Goltz syndrome[]

  • Aprosencephaly and Cerebellar Dysgenesis

    Disorders of Midline Prosencephalic Development: Agenesis of Corpus Callosum Anomalous development of the 3 telencephalic commissures (corpus callosum, anterior commissure[] WHAT TYPE OF HOLOPROSENCEPHALY WILL YOU GET WITH: •Almostcomplete division of ventricles with corpus callosum that may be normal, hypoplastic, orabsent •Cavumseptum pellucidum[] Of Corpus Callosum Syndrome X-Linked Uric Aciduria Enzyme Defect Xk Syndrome Xk-Aprosencephaly Syndrome Xo Syndrome Xp21- Syndrome Xp22 Monosomy Xp22- Syndrome Xq Duplication[]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    […] or hypoplastic corpus callosum, and dysmorphic facies 617260 601897 Autosomal dominant ZNF335 20q13.12 ?[] […] of the corpus callosum Hypermetropia Lissencephaly Heterotopia Pachygyria Sloping forehead Polymicrogyria Agenesis of corpus callosum Abnormal facial shape Coarctation of[] Of The Corpus Callosum With Peripheral Neuropathy ... ...[]

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