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Septo-optic dysplasia with associated closed lip schizencephaly: "SOD-plus syndrome".
Acta Neurol Belg
January 2025
Department of Ophthalmology and Vision Sciences, University of Toronto, 2075 Bayview Ave, North York, ON, M4N 3M5, Canada.
Prenatally Diagnosed Absent Septum Pellucidum and Septo-Optic Dysplasia: A Narrative Review and Practical Recommendations for Pediatric Neurologists.
Pediatr Neurol
December 2024
Division of Neurology & Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Evaluation of the cavum septum pellucidum is required in standard second-trimester screening fetal anatomy ultrasound scans. The absence of septum pellucidum triggers further evaluation and referral for subspecialty counseling. Absence of septum pellucidum is linked to other midline anomalies including septo-optic dysplasia.
View Article and Find Full Text PDFMorbidities and comorbidities associated with optic nerve hypoplasia and septo-optic-pituitary dysplasia.
Dev Med Child Neurol
January 2025
Department of Community Health Sciences, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Aim: To quantify optic nerve hypoplasia (ONH) and septo-optic-pituitary dysplasia (SOD) morbidities and comorbidities.
Method: A retrospective population-based study with a case-control design was undertaken using administrative health data from Manitoba, Canada. Cases were 124 patients with ONH or SOD (70 males, 54 females; age range 6 months-36 years 8 months [mean 13 years, SD 7 years 2 months]) diagnosed from 1990 to 2019, matched to 620 unrelated population-based controls (350 males, 270 females; age range 0-36 years 8 months [mean 12 years 5 months, SD 7 years 2 months]) on birth year, sex, and area of residence.
Septo-optic dysplasia plus: A case report for reviewing and recognizing this condition.
Biomedica
November 2024
Servicio de Hospitalización, Hospital Internacional de Colombia, Bucaramanga, Colombia.
Septo-optic dysplasia is a congenital neurological condition with multifactorial etiology, characterized by septum pellucidum agenesis and/or corpus callosum dysgenesis, hypoplasia of the chiasm or optic nerves, and hormonal dysfunction with pituitary or hypothalamic alterations. Diagnosis requires two of these criteria and magnetic resonance is the imaging test of choice. Most cases present with abnormalities of cortical development in the form known as septo-optic dysplasia plus.
View Article and Find Full Text PDFExploring the diverse imaging spectrum of Septo-optic dysplasia: A case series.
Radiol Case Rep
January 2025
Department of Internal Medicine, NAIHS, Kathmandu, Nepal.
Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital disorder characterized by a combination of optic nerve hypoplasia, hypothalamic-pituitary dysfunction, and midline brain abnormalities, such as the absence of the septum pellucidum or thinning/agenesis of the corpus callosum. Although bilateral optic nerve hypoplasia is more common, unilateral involvement occurs less frequently. When SOD is associated with cortical malformations, such as schizencephaly, it is referred to as Septo-optic dysplasia plus.
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