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Septo-Optic Dysplasia With Encephalocele
Journal of Clinical Neuroscience, 2009 Septo-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, Alagappan Periakaruppan
exaly +4 more sources
Epidemiology of Septo-Optic Dysplasia With Focus on Prevalence and Maternal Age – A EUROCAT Study [PDF]
European Journal of Medical Genetics, 2018 Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain.
Elizabeth S Draper +2 more
exaly +10 more sources
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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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
HESX1 And Septo-Optic Dysplasia
Reviews in Endocrine and Metabolic Disorders, 2002Mehul T Dattani
exaly +3 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
Revista de neurologia, 2002
Septo optic syndrome, described by De Morsier in 1956, consists in the hypoplasia of one or both optic nerves, mid line brain malformations and hypothalamohypophysial dysfunction, which is inconstant. It is an infrequent, but treatable, cause of hepatic and neurological damage, and it is important to obtain an early diagnosis and to begin hormone ...
Martínez-Sánchez L +5 more
openaire +2 more sources
Septo optic syndrome, described by De Morsier in 1956, consists in the hypoplasia of one or both optic nerves, mid line brain malformations and hypothalamohypophysial dysfunction, which is inconstant. It is an infrequent, but treatable, cause of hepatic and neurological damage, and it is important to obtain an early diagnosis and to begin hormone ...
Martínez-Sánchez L +5 more
openaire +2 more sources