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Indian pediatrics, 1997 Some of the next articles are maybe not open access.
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Delineating septo‐optic dysplasia
Birth Defects Research, 2022AbstractBackgroundSepto‐optic dysplasia (SOD), once a variable triad of septum pellucidum defects (SPDs), optic nerve hypoplasia (ONH), and hypopituitarism, has had multiple findings added, with uncertain causes, definitions, and limits.MethodLiterature review.ResultsSOD is a complex vascular sequence with confounders.ConclusionsProximal anterior ...
Mark Lubinsky, Férechté Encha-Razavi
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Septo-optic dysplasia with encephalocele
Journal of Clinical Neuroscience, 2009Septo-optic dysplasia is a rare congenital anomaly presenting with visual deficits or pituitary dysfunction. We report the first case of septo-optic dysplasia associated with encephalocele, partial callosal agenesis, polymicrogyria and subcortical nodular heterotopia.
Bejoy Thomas
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International Ophthalmology, 2017
A seven-month-old child with congenital poor vision was referred for evaluation. Fundus examination revealed bilateral optic nerve hypoplasia with disc macula distance of approximately ten disc diameters. Neuroimaging revealed finding consistent with septo-optic dysplasia.
Vinod, Kumar +2 more
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A seven-month-old child with congenital poor vision was referred for evaluation. Fundus examination revealed bilateral optic nerve hypoplasia with disc macula distance of approximately ten disc diameters. Neuroimaging revealed finding consistent with septo-optic dysplasia.
Vinod, Kumar +2 more
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Genetics of septo-optic dysplasia
Pituitary, 2007Septo-optic dysplasia (SOD) is a highly heterogeneous condition comprising a variable phenotype of optic nerve hypoplasia, midline forebrain abnormalities and pituitary hypoplasia with consequent endocrine deficits. The majority of cases are sporadic and several aetiologies including drug and alcohol abuse have been suggested to account for the ...
Daniel, Kelberman +1 more
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The Lancet Neurology, 2003
A 20-year-old man, with a history of congenital nistagmus and mild global developmental delay, presented with four left clonic seizures, which had each lasted for several minutes. A neuro-ophthalmic examination revealed a pendular nistagmus—attenuated with the gaze in the primary position—as well as hypoplasia in both optic discs and amblyopia.
Rafael, Camino, Antonio, Arjona
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A 20-year-old man, with a history of congenital nistagmus and mild global developmental delay, presented with four left clonic seizures, which had each lasted for several minutes. A neuro-ophthalmic examination revealed a pendular nistagmus—attenuated with the gaze in the primary position—as well as hypoplasia in both optic discs and amblyopia.
Rafael, Camino, Antonio, Arjona
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Molecular Genetics of Septo-Optic Dysplasia
Hormone Research in Paediatrics, 2000Septo-optic dysplasia (SOD) is a highly variable condition characterized by midline neurological abnormalities associated with pituitary hypoplasia and optic nerve hypoplasia. The aetiology is unknown. Mutant mice, in which a novel homeobox gene, <i>Hesx1</i>, has been disrupted, exhibit a phenotype that resembles the phenotype of SOD.
Dattani, MT +8 more
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Sotos Syndrome with Septo-Optic Dysplasia
Journal of Pediatric Endocrinology and Metabolism, 1996A 12 2/12 year-old boy was admitted to our hospital with the complaint of rapid growth. His birth and postnatal growth history, developmental retardation, physical examination and skeletal radiograms suggested Sotos syndrome. CT and MRI findings revealed septo-optic dysplasia (SOD), which is usually characterized by poor growth, together with cerebral ...
Bober, E, Buyukgebiz, A, Ercal, D
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HOLOPROSENCEPHALY AND SEPTO-OPTIC DYSPLASIA
Neuroimaging Clinics of North America, 1994Holoprosencephaly is a rare brain anomaly, which may be seen in liveborn neonates, although it is more common in stillbirths and abortions. It may occur alone or as part of a large number of genetic syndromes and associations. It is thought to arise early in embryogenesis (6 weeks), as the prosencephalon is separating into the two hemispheres.
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Septo-optic dysplasia with digital anomalies
The Journal of Pediatrics, 19841. Robertson WC, Gomez MR, Reese DF, Ozazaki H: Computerized tomography in demyelinating disease of the young. Neurology 27:838, 1977. 2. Andriola MR: Computed tomography in the diagnosis of Canavan's disease. Ann Neurol 11:323, 1982. 3. Boltshauser E, Spiess H, Isler W: Computed tomography in neurodegenerative disorders in childhood. Neuroradiology 16:
R A, Pagon, M J, Stephan
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