Results 31 to 40 of about 279,200 (174)
European Journal of Human Genetics, 2009 This review summarises the key clinical features of septo-optic dysplasia (SOD), the significant inroads that progress in genetics has made into our understanding of the aetiology of the condition over the last decade, and the pitfalls and challenges that we face in the management of these phenotypically variable patients.
Emma A, Webb, Mehul T, Dattani
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Nailing septo-optic dysplasia. [PDF]
BMJ Case Rep, 2018 A 3-year-old girl presented to us with short stature, loss of vision in both eyes and strabismus. She had a history of recurrent hypoglycaemia and seizures in the early neonatal period. Ophthalmological examination in infancy revealed bilateral cupping of optic disc and increased intraocular pressure (IOP) for which dorzolamide was started.
Palui R +3 more
europepmc +4 more sources
CT of septo-optic dysplasia [PDF]
American Journal of Roentgenology, 1979 Two girls, aged 7 1/2 and 12 years, clinically suspect for septo-optic dysplasia, were investigated by computed tomography (CT). The clinical picture in both cases associated blindness with hypoplasia of both optic discs, and short stature with growth hormone deficiency. Diabetes insipidus was also present in one case.
C, Manelfe, P, Rochiccioli
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Journal of Pediatric Endocrinology and Metabolism, 2010 Septo-optic dysplasia is a rare disorder characterized by optic nerve hypoplasia; midline developmental defects including agenesis of the septum pellucidum, thinning or absence of the corpus callosum, or both; and deficiencies of pituitary hormones. The majority of cases are sporadic but rare familial cases occur.
Naseer A, Choh +3 more
+6 more sources
Gastroschisis Complicated by Septo-Optic Dysplasia: Two Distinct Anomalies with a Common Origin
American Journal of Perinatology Reports, 2016 Introduction Gastroschisis is considered to be an isolated abdominal wall defect that is infrequently associated with other anomalies. Case This case describes an infant with gastroschisis who developed refractory shock after an ...
Jodi Garvin +2 more
doaj +1 more source
Ultrasound assessment of the fetal optic chiasm
Journal of Medical Ultrasound, 2023 This article reviews the literature on different methods of prenatal ultrasound visualization of the optic chiasm (OC) and its applications. Prenatal imaging of the OC is feasible from 19 to 37 weeks of gestation.
Jo-Ting Wang, Tung-Yao Chang
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Septo-optic Dysplasia with Cerebellar Hemiagenesis.
J Pediatr Neurosci, 2020 A 1-month-old girl child, who was found to have hydrocephalus on prenatal ultrasound, was postnatally evaluated with magnetic resonance imaging (MRI) of brain, which showed two classical findings of septo-optic dysplasia (SOD), namely optic nerve hypoplasia and absent septum pellucidum. In addition, the patient was found to have cerebellar hemiagenesis.
Parry AH, Wani AH.
europepmc +4 more sources
A Case of Septo-Optic Dysplasia
The Tohoku Journal of Experimental Medicine, 1978 A child was reported here who has the hypoplastic optic nerve, absent septum pellucidum and endocrinological disorders. Growth hormone deficiency, antidiuretic hormone deficiency and mild hypothyroidism were observed. He has been treated with thyroid hormone and DDAVP.
FUKUSHIMA, NAOKI +4 more
openaire +3 more sources
Septo-Optic Dysplasia: A Case Report
Türk Oftalmoloji Dergisi, 2014 An 18-year-old male patient was admitted with loss of vision in the right eye and blurred vision in the left eye. The right eye did not respond to the stimuli in the pattern visual evoked potentials (PVEP) test, and there was a significant delay in the ...
Sinan Bilgin +3 more
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Bilateral Perisylvian Syndrome with Typical Imaging Features– A Case Report [PDF]
International Journal of Anatomy Radiology and Surgery, 2019 Bilateral perisylvian syndrome is a congenital neurological disorder characterised by abnormal distribution of neurons in cortex. Unilateral entity may also occur but is less common.
Rama Krishna Narra +3 more
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