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Sida 1 från 29 resultat
Bilateral Sturge-Weber syndrome presenting with early onset convulsion and high myopia.
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Unusual association of XYY chromosomal constitution with colobomas of iris, myopia, increased lipoproteins, mental retardation and convulsions.
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Review of sulfonamide-induced acute myopia and acute bilateral angle-closure glaucoma.
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Sulfonamide medications can cause an idiosyncratic reaction, resulting in acute transient myopia and acute angle-closure glaucoma. The risk of an adverse reaction to a sulfonamide is approximately 3%, and the exact mechanism of the myopia and angle-closure glaucoma remains controversial. Typical
Acute myopia and angle closure glaucoma from topiramate in a seven-year-old: a case report and review of the literature.
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BACKGROUND
A case is reported of acute bilateral myopia and angle closure glaucoma in a 7-year-old patient from topiramate toxicity. This is the second known reported case of topiramate induced acute angle closure glaucoma and third known reported case of topiramate induced acute myopia in a
Topiramate-induced angle closure with acute myopia, macular striae.
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Topiramate is a sulfamate-substituted monosaccharide used in the treatment of seizures, and prophylaxis of migraine. A number of ocular side-effects have been described with use of topiramate, like bilateral angle closure, acute myopia and macular striae. Ultrasound biomicroscopy (UBM) clinches the
Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.
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Only 20 patients with deletions of 18q12.2 have been reported in the literature and the associated phenotype includes borderline intellectual disability, behavioral problems, seizures, obesity, and eye manifestations. Here, we report a male patient with a de novo translocation involving chromosomes
Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review
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Background: Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
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We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial
Ophthalmologic abnormalities in a de novo terminal 6q deletion.
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OBJECTIVE
To correlate the clinical phenotype with the genotype of a boy with a terminal deletion of chromosome 6q and to compare these observations to previous reports of 6q deletions and review of the literature.
METHODS
Careful clinical evaluation, conventional cytogenetic analysis on GTG-banded
Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation.
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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive syndrome that affects the tight junction proteins claudin-16 and claudin-19 in the thick ascending limb. In patients with claudin-19 mutations, additional symptoms such as visual impairment and other
Juberg-Hayward syndrome: a new case report and clinical delineation of the syndrome.
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We report a new case of Juberg-Hayward (orocraniodigital) syndrome (JHS). This 7-year-old Thai boy had characteristic features together with a number of newly recognized findings. Those findings are humeroradial synostosis (HRS), carpal anomalies, simian crease, brachydactyly A4, widely spaced
The neurotoxicity of antibacterial agents.
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Commonly used antibacterial agents may be associated with various neurotoxic reactions. Central nervous system toxicities include seizure disorders, encephalopathy, bulging fontanelles, and neuropsychiatric symptoms. These abnormalities have been associated with the use of the penicillins,
Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.
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BACKGROUND
Lysosomal storage diseases (LSD) often manifest with cherry red macular spots. Diagnosis is based on clinical features and specific biochemical and enzymatic patterns. In uncertain cases, genetic testing with next generation sequencing can establish a diagnosis, especially in milder or
A novel pattern of oculocerebral malformation.
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OBJECTIVE
To report a novel pattern of oculocerebral malformation related to the group of diseases characterised by cobblestone lissencephaly.
METHODS
By means of a case report with specialist descriptions of the novel neuropathological and ophthalmic pathology features.
RESULTS
The patient, born to
A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.
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BACKGROUND
Homocystinuria caused by cystathionine beta synthase (CBS) deficiency is most often diagnosed in childhood and has a variable expressivity. The most frequent abnormalities include intellectual disability, ectopia lentis, myopia, skeletal abnormalities or thromboembolism.
OBJECTIVE
To
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