نتایج جستجو برای: keratoglobus
تعداد نتایج: 79 فیلتر نتایج به سال:
X-linked megalocornea (MGC1) is an ocular anterior segment disorder characterized by an increased cornea diameter and deep anterior chamber evident at birth and later onset of mosaic corneal degeneration (shagreen), arcus juvenilis, and presenile cataracts. We identified copy-number variation, frameshift, missense, splice-site and nonsense mutations in the Chordin-like 1 gene (CHRDL1) on Xq23 a...
Wolfram-like syndrome (WFSL) is a rare autosomal dominant disease characterised by congenital progressive hearing loss, diabetes mellitus, and optic atrophy. The patient was a boy with the juvenile form of diabetes mellitus and findings which clinically matched the symptoms of Wolfram syndrome. At the age of 3 1/4 years, diabetes mellitus was diagnosed in this boy who also had severe psychomoto...
PURPOSE To clinically and genetically characterize a distinct phenotype of congenital megalocornea (horizontal corneal diameter ≥13 mm) with secondary glaucoma from spherophakia and/or ectopia lentis during childhood in affected Saudi families. METHODS Clinical exam, homozygosity scan, and candidate gene analysis. RESULTS From 2005 to 2010, eight affected individuals from three consanguineo...
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glaucoma (PCG). Megalocornea is also a feature of Neuhäuser or megalocornea-mental retardation (MMR) syndrome, a rare condition of unknown etiology. In ...
RATIONALE Megalophthalmos anterior is a rare, bilateral, nonprogressive, hereditary, congenital disorder, characterized by the enlargement of all anterior segment structures of the eye, with megalocornea, iris atrophy, and zonular abnormalities commonly found. Usually almost asymptomatic in young patients, with most complaints concerning blurred vision due to the common corneal astigmatism, it ...
BACKGROUND Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been described, PCH type 2 related to TSEN54 mutations being the most frequent. PCH is most often autosomal recessive though de novo anomalies in the X-linked g...
Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre RS, Brazil: MD, Child Neurologist; MD, Geneticist; Ph.D. Child Neurologist, Pediatric Neurology Residency Program Preceptor; Ph.D. Child Neurologist, Adjunct Professor of Pediatrics, Head of Pediatric Neurology Unit. The Neuhauser syndrome was first described in 1975. Three siblings in the same family ...
osting by E Abstract Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental retardation, broad thumbs and toes, short stature, growth retardation and distinctive facial features. We report an Egyptian patient, 5 months old with mild RTS. Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, hig...
While the functionality of emerging wireless microsensors, cellular phones, and biomedical implants, to name a few, is on the rise, their dimensions continue to shrink. This is unfortunate because smaller batteries exhaust quicker. Not surprisingly, recharging batteries wirelessly is becoming increasingly popular today. Still, small pickup coils cannot harness much, so induced EMF voltages vEMF...
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