Results 21 to 30 of about 279,200 (174)
Septo-optic dysplasia/de Morsier's syndrome [PDF]
Saudi Journal of Anaesthesia, 2017 Septo-optic dysplasia (SOD)/de Morsier's syndrome is characterized by optic nerve hypoplasia, pituitary endocrine dysfunction, and midline brain abnormalities.
Pedro Reis, Joana Mourão
doaj +2 more sources
Septo-optic dysplasia with amniotic band syndrome sequence: a case report [PDF]
Journal of Medical Case Reports, 2019 Introduction De Morsier syndrome, or septo-optic dysplasia, is a rare, heterogeneous, complex condition with a highly variable phenotype. It is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline brain abnormalities ...
Insiyah A. Amiji +6 more
doaj +2 more sources
Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report [PDF]
BMC Medical Genetics, 2019 Background Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain including absence of the septum ...
A. Fernández-Marmiesse +6 more
doaj +2 more sources
Stress-Induced Oculogyric Crisis in Septo-Optic Dysplasia: Case Report [PDF]
Case Reports in OphthalmologyIntroduction: Oculogyric crisis (OGC) is a dystonic movement disorder of varying durations that manifests as bilateral paroxysmal upward eye deviation accompanied by involuntary blinking, tongue protrusion, and autonomic symptoms. Separately, septo-optic
Phillip Keys +3 more
doaj +2 more sources
Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia).
Journal of neuroradiology = Journal de neuroradiologie, 1996 It is generally accepted that there are two subsets of septo-optic dysplasia (deMorsier's syndrome), one with schizencephaly and the other without schizencephaly. A third form of the anomaly which is associated with callosal absence has also been described.
Sener, RN
openaire +3 more sources
Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders [PDF]
EClinicalMedicine, 2020 Background: Septo-optic dysplasia (SOD) is a heterogeneous congenital condition. The aim of this study was to investigate the clinical phenotypes of a large cohort of children with SOD, Multiple Pituitary Hormone Deficiency (MPHD) and Optic Nerve ...
M. Cerbone +4 more
doaj +2 more sources
, 2018 Purpose Septo-optic dysplasia is a congenital disorder consisting of optic nerve hypoplasia and absent septum pellucidum. While associated anomalies have been described, olfactory sulcus and bulb-tract hypoplasia have been scantily reported and was the ...
Nascene, David +7 more
openaire +2 more sources
Sotos Syndrome with Septo-Optic Dysplasia
Journal of Pediatric Endocrinology and Metabolism, 1996 A 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
openaire +4 more sources
Novel Genetic Diagnoses in Septo-Optic Dysplasia. [PDF]
Genes (Basel), 2022 Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies, with a high degree of variability and additional systemic anomalies present in some cases ...
Reis LM +7 more
europepmc +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