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13 Possible Causes for Agenesis of the Occipital Lobes, Cardiomyopathy

  • Congenital Muscular Dystrophy

    cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively.[ncbi.nlm.nih.gov] Uncommonly, agenesis of septum pellucidum can be seen. Polymicrogyria typically seen in the frontal and parietal lobes.[neuroradiologycases.com] , Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar, Cataract 16, multiple types, Myopathy, myofibrillar, fatal infantile hypertonic[blueprintgenetics.com]

  • Muscular Dystrophy-Dystroglycanopathy Type A4

    Although neuromuscular diseases are often related to cardiomyopathy, reports showing a relation between cardiomyopathy and Fukuyama-type muscular dystrophy have been rare.[ejcts.oxfordjournals.org] Uncommonly, agenesis of septum pellucidum can be seen. Polymicrogyria typically seen in the frontal and parietal lobes.[neuroradiologycases.com] The older brother underwent cardiac transplantation due to dilated cardiomyopathy at the age of 14.[thieme-connect.com]

  • Femoral Agenesis - Femoral Hypoplasia

    […] are other cardiovascular malformations seen in IDMs. [2] Functional abnormalities which are present in up to 30% of IDMs include intraventricular septal hypertrophy and cardiomyopathy[ijri.org] (A) and parietal (B) lobes on both sides Click here to view Figure 4 :Caudal regression syndrome (complete agenesis of sacrum): Frontal radiograph of the pelvis shows a contracted[ijri.org] […] an absent falx cerebri (open arrow) Click here to view Figure 3 :(A,B)Neonatal hypoglycemia: CT scan of the brain shows typical low attenuation in the white matter of the occipital[ijri.org]

  • Femoral Hypoplasia

    […] are other cardiovascular malformations seen in IDMs. [2] Functional abnormalities which are present in up to 30% of IDMs include intraventricular septal hypertrophy and cardiomyopathy[ijri.org] (A) and parietal (B) lobes on both sides Click here to view Figure 4 :Caudal regression syndrome (complete agenesis of sacrum): Frontal radiograph of the pelvis shows a contracted[ijri.org] […] an absent falx cerebri (open arrow) Click here to view Figure 3 :(A,B)Neonatal hypoglycemia: CT scan of the brain shows typical low attenuation in the white matter of the occipital[ijri.org]

  • Meconium Plug Syndrome

    […] are other cardiovascular malformations seen in IDMs. [2] Functional abnormalities which are present in up to 30% of IDMs include intraventricular septal hypertrophy and cardiomyopathy[ijri.org] (A) and parietal (B) lobes on both sides Click here to view Figure 4 :Caudal regression syndrome (complete agenesis of sacrum): Frontal radiograph of the pelvis shows a contracted[ijri.org] […] an absent falx cerebri (open arrow) Click here to view Figure 3 :(A,B)Neonatal hypoglycemia: CT scan of the brain shows typical low attenuation in the white matter of the occipital[ijri.org]

  • Ring Chromosome 19

    J, Gallego S Brit J Cancer 2017, 117(9):1314-1325. doi: 10.1038/bjc.2017.305 Catecholamine-dependent β-adrenergic signaling in a pluripotent stem cell model of Takotsubo cardiomyopathy[humangenetik-umg.de] […] of the corpus callosum and mild changes in the white matter in the occipital lobes; several generalized tonic-clonic seizures started at 1 year of age.[ssmc-tl.com] […] interactions; mild dysmorphic features including macrocranium, round face, upslanting eyes and thick auricles Brain CT and MRI performed revealed cortical atrophy, partial agenesis[ssmc-tl.com]

  • Short Rib-Polydactyly Syndrome Type Beemer-Langer

    11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3 Myosin Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3,[ipfs.io] […] meningocele Olfactory lobe agenesis Everted upper lip vermilion Broad foot Pancreatic islet-cell hyperplasia Cutaneous syndactyly Depressivity Alopecia Proteinuria Sparse[mendelian.co] 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy[en.wikipedia.org]

  • Lethal Arthrogryposis - Anterior Horn Cell Disease Syndrome

    1A 6 Dilated Cardiomyopathy 1Aa 6 Dilated Cardiomyopathy 1BB 1 Dilated Cardiomyopathy 1C 6 Dilated Cardiomyopathy 1CC 6 Dilated Cardiomyopathy 1D 4 Dilated Cardiomyopathy[preventiongenetics.com] […] hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly[mendelian.co] Barth syndrome is an X-linked disorder which presents in males with peripheral hypotonia, cardiomyopathy, neutropenia, and growth delay.[clinicaladvisor.com]

  • Autosomal Recessive Distal Osteolysis Syndrome

    […] dystrophy Pulverulent cataract Autosomal dominant nonsyndromic sensorineural deafness type DFNA Left ventricular noncompaction Nuclear cataract Familial isolated dilated cardiomyopathy[csbg.cnb.csic.es] […] hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly[mendelian.co] […] right ventricular cardiomyopathy arrhythmogenic right ventricular dysplasia/cardiomyopathy, see arrhythmogenic right ventricular cardiomyopathy ARS, see Axenfeld-Rieger syndrome[mygenomics.com]

  • Chromosome 17p13.1 Deletion Syndrome

    […] intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy[dovepress.com] agenesis Occipital meningocele Cystic liver disease Urethral obstruction True hermaphroditism Large placenta Hypoplasia of the bladder Cerebral hypoplasia Urethral atresia[mendelian.co] The heart defects include pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy.[mendelian.co]

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