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940 Possible Causes for Agenesis of Corpus Callosum, Congenital Eye Anomaly

  • Frontonasal Dysplasia

    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[ncbi.nlm.nih.gov] Abstract Frontonasal dysplasia is a rare congenital anomaly affecting the eyes, nose and forehead, and occurs sporadically in most of the cases.[ncbi.nlm.nih.gov] Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and[ncbi.nlm.nih.gov]

  • 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[advancedradteaching.com] Isolated and total optic disc coloboma is a markedly rare congenital anomaly of the eye.[ncbi.nlm.nih.gov] Associations CHARGE syndrome encephalocoele agenesis of the corpus callosum Jacobsen syndrome Treacher-Collins syndrome : rare Roberts syndrome : rare Gorlin-Goltz syndrome[radiopaedia.org]

  • 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] Other ocular malformations were anterior segment dysgenesis in the right eye and congenital cataract or lens abnormality in the left eye.[ncbi.nlm.nih.gov] In a discrete number of cases, schizencephaly, agenesis of the corpus callosum or other cortical malformations are associated (SOD-plus).[ncbi.nlm.nih.gov]

  • 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] Other congenital malformations of anterior segment of eye Q13.81 Rieger's anomaly Q13.89 Other congenital malformations of anterior segment of eye Q13.9 Congenital malformation[icd10coded.com] Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.[icd10data.com]

  • TORCH Syndrome

    Dandy–Walker malformation (DWM), in addition to posterior fossa large cyst, cerebellar vermis hypoplasia, and hydrocephalus is often associated with agenesis of the corpus[asianjns.org] Anterior segment anomalies and retinal dysplasia have been described with muscle-eye-brain disease, Walker–Warburg syndrome, and Fukiyama congenital muscular dystrophy where[nature.com] Hepatosplenomegaly, hematological abnormalities, agenesis of the corpus callosum, and hepatocellular changes similar to the present case have been reported previously(2,4,6[indianpediatrics.net]

  • Mowat-Wilson Syndrome

    […] of the corpus callosum.[symptoma.com] Additional findings include structural brain abnormalities, eye defects, congenital heart defects, Hirschsprung disease (HSCR), and genitourinary anomalies.[ncbi.nlm.nih.gov] […] heart defects, agenesis of the corpus callosum and eye anomalies.[genome.jp]

  • Hallermann-Streiff Syndrome

    […] of the corpus callosum. ( 16225817 ) Sigirci A....Yakinci C. 2005 35 Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case. ( 15581837 ) Ertekin V..[malacards.org] Hallermann-Streiff syndrome is a rare congenital disorder characterized as a complex association of developmental anomalies involving structures of ectodermal origin (the[ncbi.nlm.nih.gov] M.X. 2008 33 Hallermann-Streiff syndrome: those are not supernumerary teeth. ( 16615982 ) Ahn B.D....Kim J.W. 2006 34 Hallermann-Streiff syndrome associated with complete agenesis[malacards.org]

  • Anophthalmos

    corpus callosum.[ncbi.nlm.nih.gov] Four children with severe congenital eye anomalies are described of which three had related symptoms.[ncbi.nlm.nih.gov] : Anophthalmos, microphthalmos, and typical coloboma (AMC) form an interrelated spectrum of congenital eye anomalies that can cause significant visual loss and cosmetic disfigurement[ncbi.nlm.nih.gov]

  • Choroid Hemangioma

    X-linked Aicardi syndrome: The tumor is also seen in Aicardi syndrome (infantile spasms, agenesis of the corpus callosum, lacunar chorioretinopathy, and X-linked dominant[ispn.guide] anomaly whereby the eye is shorter than normal, develops a cataract, and may present with whitening of the pupil.[murraymd.com] Parents can observe the red reflex can be seen by dimming the room lights and using a flashlight to shine light directly into the child's eyes.[murraymd.com]

  • CHARGE Syndrome

    ., agenesis of the corpus callosum).[encyclopedia.com] A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and[ncbi.nlm.nih.gov] Radiographic studies have shown instances of dysgenesis or agenesis of the corpus callosum.[asha.org]

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