Results 1 to 10 of about 1,265 (115)
Septo-optic dysplasia in an infant. [PDF]
Radiol Case Rep, 2022 Septo-optic dysplasia (SOD) is a rare congenital disorder occurring in only 1 in 10,000 live births. Initially it was described in 1941 by Reeves and further discussed by the French-Swiss neurologist de Morsier (1956) as the disease further addressed his name.
Aliu E +14 more
europepmc +4 more sources
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
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
Septo-optic dysplasia PLUS syndrome in a 23 years old patient: A case report [PDF]
Radiology Case Reports, 2023 Yahya El Harras +2 more
exaly +2 more sources
Arquivos de Neuro-Psiquiatria, 2010 Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction.
Ferran, Karina de +6 more
+10 more sources
Novel Genetic Diagnoses in Septo-Optic Dysplasia [PDF]
Genes, 2022 Linda M Reis +2 more
exaly +2 more sources
Neuroimaging of septo-optic dysplasia-plus with midbrain hypoplasia and ophthalmoplegia [PDF]
ENeurologicalSci, 2020 Daniel Thomas Ginat
exaly +2 more sources
BMJ, 1972 Four children are described who had hypoplastic optic nerves, absent septa pellucida, and various types of endocrinological dysfunction. The importance is stressed of recognizing this syndrome and of following up the growth of the patient, because now that human growth hormone is available the short stature of some blind children may be susceptible to ...
C G, Brook, M D, Sanders, R D, Hoare
openaire +2 more sources
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
openaire +2 more sources
, 2021 Septo-optic dysplasia (SOD) or de Morsier's syndrome is a rare congenital disorder characterized by a classic triad of: (a) optic nerve hypoplasia, (b) agenesis of septum pellucidum and corpus callosum, and (c) hypoplasia of the hypothalamic-pituitary axis.
Ieva, Sataite +3 more
openaire +3 more sources