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2,581 Possible Causes for Persistent Notochordal Canal, Small Optic Disc, Ventricular Septal Defect

  • Velocardiofacial Syndrome

    The proband in family 1 was a male infant with persistent hypocalcemia and cardiac defects consisting of truncus arteriosus, atrial septal defect, ventricular septal defect[ncbi.nlm.nih.gov] optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Optic Atrophy-Intellectual Disability Syndrome

    Cardiovascular disease Congenital malformations of the heart occur in about 46%. [ 5 ] Most common are ventricular septal defect, atrial septal defect, pulmonary stenosis[patient.info] disc small and large excavation; MRI-brain normal - NHLRC2, NR2F1, PLAC1L, POF1B 6 1 Danielle Bosch 00039410 - PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016[databases.lovd.nl] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • Congenital Non-Progressive Ataxia

    Septal Defects Vernal Keratonconjunctivitis Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) Vitamin B12 Deficiency Vitiligo Vogt-Koyanagi-Harada Disease Von Hippel-Lindau[arrayit.com] Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy[ncbi.nlm.nih.gov] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    septal defect Peters anomaly Amblyopia Scleral thickening Anophthalmia Abnormality of retinal pigmentation Abnormal choroid morphology Abnormality of the retinal vasculature[mendelian.co] Fundal examination revealed chorioretinal folds with an unusual appearance at the macula with optic disc crowding (Figs 1, 2, 3, 4, 5 ).[bjo.bmj.com] notochordal canal syndrome 4 Cases 794 Saethre-Chotzen syndrome 3.0 BP * 300493 Sagliker syndrome 60 Cases 140969 Saldino-Mainzer syndrome 10 Cases 370938 Salt-and-pepper[azkurs.org]

  • Holt Oram Syndrome

    The cardiac malformations most commonly associated with Holt-Oram syndrome are atrial or ventricular septal defects.[ncbi.nlm.nih.gov] notochordal canal.[els.net] In the first fetus, the existence of Holt-Oram syndrome was suspected at 22 weeks of gestation; a ventricular septal defect, an atrial septal defect, and a minor skeletal[ncbi.nlm.nih.gov]

    Missing: Small Optic Disc
  • Anomalies of Great Veins, Congenital

    […] of ventricular septal defect.[aafp.org] Optic nerve hypoplasia 38 is a congenital abnormality characterized by reduced number of axons in the optic nerve manifesting clinically as a small disc, often surrounded[nature.com] ventricular septal defect and pulmonary stenosis.[sonoworld.com]

    Missing: Persistent Notochordal Canal
  • Pulmonary Branch Stenosis

    METHODS: Two patients aged 4 and 6 months underwent beating-heart closure of a muscular ventricular septal defect (VSD) with an occluding device.[readbyqxmd.com] Ophthalmic anomalies include posterior embryotoxon (75% of cases), Axenfeld anomaly (see this term), pigmentary retinopathy, papillary and optic disc anomalies.[orpha.net] , or ventricular septal defect is present.[emedicine.medscape.com]

    Missing: Persistent Notochordal Canal
  • Alagille Syndrome

    He was also found to have obstructive jaundice, pulmonary stenosis with ventricular septal defect and paucity of bile ducts in liver biopsy.[ncbi.nlm.nih.gov] Ophthalmic anomalies include posterior embryotoxon (75% of cases), Axenfeld anomaly (see this term), pigmentary retinopathy, papillary and optic disc anomalies.[orpha.net] Thirteen had pulmonary atresia with ventricular septal defect (PA/VSD) and two had pulmonary atresia with intact ventricular septum (PA-IVS).[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Multiple Congenital Anomalies

    We report on a fetus with multiple congenital anomalies including atypical lissencephaly, corpus callosum agenesis, cerebellar hypoplasia, cleft palate, ventricular septal[ncbi.nlm.nih.gov] Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole.[ncbi.nlm.nih.gov] septal defect, absent spleen, camptodactyly, and severe psychomotor retardation.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Chondrodysplasia Punctata

    disc atrophy, small optic nerves) Cardiac abnormalities (PDA, VSD, ASD) Gastroesophageal reflux Feeding difficulties Heterozygotes.[ncbi.nlm.nih.gov] […] cervical spine abnormalities ( 25%) Delayed cognitive development (16%-20%) Less frequently seen findings included the following: Ophthalmologic abnormalities (cataracts, optic[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal

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