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Artykuły w czasopismach na temat "Chorioretinal lacunae"

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Sinha, Ayushi, and Anamika Nath. "Chorioretinal lacunae." Indian Journal of Ophthalmology - Case Reports 3, no. 2 (2023): 636. http://dx.doi.org/10.4103/ijo.ijo_165_23.

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Tripathy, Koushik, Rohan Chawla, and Divya Betala. "Seizures and chorioretinal lacunae in an infant." Journal of Paediatrics and Child Health 53, no. 9 (2017): 919. http://dx.doi.org/10.1111/jpc.1_13465.

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ITURRALDE, DIANA, CATHERINE B. MEYERLE, and LAWRENCE A. YANNUZZI. "Aicardi Syndrome: Chorioretinal Lacunae Without Corpus Callosum Agenesis." Retina 26, no. 8 (2006): 977–78. http://dx.doi.org/10.1097/01.iae.0000224937.78389.15.

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International, Journal of Medical Science and Innovative Research (IJMSIR). "A case report on Aicardi Syndrome." International Journal of Medical Science and Innovative Research (IJMSIR) 9, no. 4 (2024): 03–08. https://doi.org/10.5281/zenodo.15422265.

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<strong>Abstract</strong> Aicardi syndrome is a genetic disorder linked to the X chromosome, predominantly affecting females. Diagnosis requires the presence of three key features: absence of the corpus callosum, infantile spasms, and chorioretinal lacunae. This case study details the presentation of a female newborn delivered at 36weeks gestation, who presented to the emergency department with arm and leg stiffness. An electroencephalogram confirmed generalized hypsarrhythmia, characteristic of infantile spasms. Magnetic resonance imaging revealed complete absence of the corpus callosum. Subs
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de Leeuw, Carola, Anne Kurver, and Aad Verrips. "Chorioretinal Lacunae in Aicardi's Syndrome: Key for the Diagnosis." Neuropediatrics 51, no. 04 (2020): 311–12. http://dx.doi.org/10.1055/s-0040-1709454.

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Bayram-Suverza, Mauricio, Karla Alejandra Torres-Navarro, Ángeles Yahel Hernández-Vázquez, and Juan Abel Ramírez-Estudillo. "Microcephaly and Chorioretinopathy Relevance as a Differential Diagnosis." Diagnostics 13, no. 15 (2023): 2588. http://dx.doi.org/10.3390/diagnostics13152588.

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Microcephaly and chorioretinopathy are genetic disorders that are inherited in an autosomal recessive manner. The most frequent ocular manifestation is the presence of lacunar atrophy in the retina and choroid. The diagnosis of this condition can be challenging as several potential causes and related syndromes need to be ruled out. We present two cases of microcephaly and chorioretinopathy in Mexican patients, their clinical characterization, and discuss the differential diagnoses that should be considered. An 8-year-old girl was examined due to a history of decreased vision in both eyes. Fund
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Aicardi, Jean. "Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?" Developmental Medicine & Child Neurology 47, no. 6 (2007): 364. http://dx.doi.org/10.1111/j.1469-8749.2005.tb01153.x.

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Viñas, Jose Maria Prats, María Jesús Martinez Gonzalez, Ainhoa Garcia Ribes, Sonia Martinez Gonzalez, and Ricardo Martinez Fernandez. "Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?" Developmental Medicine & Child Neurology 47, no. 6 (2007): 419–20. http://dx.doi.org/10.1111/j.1469-8749.2005.tb01164.x.

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Viñas, Jose Maria Prats, María Jesús Martinez Gonzalez, Ainhoa Garcia Ribes, Sonia Martinez Gonzalez, and Ricardo Martinez Fernandez. "Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?" Developmental Medicine & Child Neurology 47, no. 6 (2005): 419–20. http://dx.doi.org/10.1017/s0012162205000812.

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Aicardi, Jean. "Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?" Developmental Medicine & Child Neurology 47, no. 6 (2005): 364. http://dx.doi.org/10.1017/s001216220521071x.

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Części książek na temat "Chorioretinal lacunae"

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Gorlin, Robert J., M. Michael Cohen, and Raoul C. M. Hennekam. "Orofacial Clefting Syndromes: Associations." In Syndromes of the Head and Neck. Oxford University PressNew York, NY, 2001. http://dx.doi.org/10.1093/oso/9780195118612.003.0023.

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Abstract Aicardi syndrome consists of seizures, callosal agenesis, severe mental retardation, delayed development, and ocular abnormalities (chorioretinal lacunae, microphthalmia) occurring in retarded females. It is believed to be caused by an X-linked dominant gene that is lethal in the hemizygous male. The gene maps to Xp22.3 (1). Death usually occurs during the first decade of life. The syndrome has been reported in association with porencephaly, corticoheterotopias, Arnold-Chiari malformation, papilloma of the choroid plexus, lissencephaly, ventricular cyst, polygyria, microgyria, arhinen
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