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1,909 Possible Causes for Agenesis of Corpus Callosum, Proximally Placed Thumb, Tectal Enlargement

  • Aicardi's Syndrome

    enlargement choroid plexus papilloma choroid plexus carcinoma polymicrogyria (predominantly frontal and perisylvian) intracranial cysts (diameters range between 1.0-5.0 cm[radiopaedia.org] 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]

  • Smith Lemli Opitz Syndrome

    […] of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis[ncbi.nlm.nih.gov] placed thumbs.[orpha.net] She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral[ncbi.nlm.nih.gov]

    Missing: Tectal Enlargement
  • Mowat-Wilson Syndrome

    […] of the corpus callosum.[symptoma.com] […] that did not require surgery, ulnar deviation of the hands, proximally placed thumbs, delayed bone age, significant scoliosis, and camptodactyly [ Mowat et al 2003, Adam[ncbi.nlm.nih.gov] […] that did not require surgery, ulnar deviation of the hands, proximally placed thumbs, delayed bone age, significant scoliosis, and camptodactyly [ Mowat et al 2003 , Adam[ncbi.nlm.nih.gov]

    Missing: Tectal Enlargement
  • Partial Monosomy 18q

    Milder forms include absent olfactory tracts and bulbs, agenesis of corpus callosum, hypopituitarism and minor facial features (hypo- or hypertelorism, flat nasal bridge)[ojrd.biomedcentral.com] placed thumbs 33 Chorea 3 Nystagmus 30 Gap between 1st & 2nd toe 3 Palate abnormality 30 Low posterior hairline 3 Cleft 12 Scoliosis 3 High arched 15 Strawberry birthmark[labmed.hallym.ac.kr] Severe malformations of the brain associated with facial features such as cyplopia, cebocephaly, premaxillary agenesis, bilateral cleft lip and palate are present in 10–15[ojrd.biomedcentral.com]

    Missing: Tectal Enlargement
  • Aprosencephaly and Cerebellar Dysgenesis

    […] ventricles (enlargement of occipital horns) Enlarged massa intermedia (interthalamic adhesion) and absence of the septum pellucidum.[sites.google.com] What do you get when there is a complete or partial absence of the corpus callosum? Agenesis of the corpus callosum WHEN DOES AGENESIS OF CORPUS CALLOSUM OCCUR?[cram.com] 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[neo-genetics.com]

    Missing: Proximally Placed Thumb
  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    , enlarged foramen magnum, and dysgenesis of the corpus callosum.[rrnursingschool.biz] Agenesis of the Corpus Callosum.[slideplayer.com] Other anomalies associated with Dandy-Walker Malformation include agenesis of the Corpus Callosum, Aqueduct of Sylvius stenosis, microcephaly, encephalocele, gyral malformations[neurosurgerydallas.com]

    Missing: Proximally Placed Thumb
  • Infantile Choroidocerebral Calcification Syndrome

    (herniation of gyri), enlarged massa intermedia, partial/complete agenesis/dysgenesis of corpus callosum (80-90%), dysplastic posterior cingulate gyrus, syringohydromyelia[radnotes.co.nz] Also seen in corpus callosum agenesis.[ultrasound-images.com] […] in a patient with agenesis of corpus callosum.[ijri.org]

    Missing: Proximally Placed Thumb
  • Aqueduct of Sylvius Anomaly

    […] enough to obstruct aqueduct may be missed on routine CT scanning – MR more sensitive than CT for detecting obstructing mass lesion – Consider neurofibromatosis type 1 when tectal[slideshare.net] 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] In the midbrain one may encounter tectal beaking and stenosis of the aqueduct of Sylvius, with forking and periaqueductal gliosis (Brocklehurst,1978).[ispub.com]

    Missing: Proximally Placed Thumb
  • Pineal Gland Cyst

    The most common associated finding will be hydrocephalus as a sequelae of tectal plate enlargement and compression of the Sylvian aqueduct.[jaocr.org] Aicardi syndrome is a cerebroretinal disorder consisting of a heterogeneous spectrum of clinical findings that includes the triad of infantile spasms, agenesis of the corpus[ncbi.nlm.nih.gov] callosum, and chorioretinal lacunae.[ncbi.nlm.nih.gov]

    Missing: Proximally Placed Thumb
  • Congenital Iris Coloboma

    MAPGROUP 3 6011000124106 MAPTARGET 6011000124106 MAPADVICE IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE M26.09 MAP OF SOURCE[bioportal.bioontology.org] , short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1 st –2 nd finger syndactyly, distal phalanges of fingers hypoplasia, camptodactyly, delayed[ojrd.biomedcentral.com] Associations CHARGE syndrome encephalocoele agenesis of the corpus callosum Jacobsen syndrome Treacher-Collins syndrome : rare Roberts syndrome : rare Gorlin-Goltz syndrome[radiopaedia.org]

    Missing: Tectal Enlargement

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