Results 91 to 100 of about 279,200 (174)

Septo-optic dysplasia and schizencephaly: a case report

, 2012
Introduction: Septo-optic dysplasia (SOD) is an uncommon developmental disorder involving variable midline brain structures, characterized by optic nerve hypoplasia, dysgenesis of septum pellucidum and pituitary- hypothalamic dysfunction with consequent ...
Paziente, L, NARDELLO, Rosaria, MANGANO, Salvatore   +2 more
core  

Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.

, 2002
Item does not contain fulltextWe report on a 25-year-old patient with isolated mitochondrial complex III deficiency and a new heteroplasmic mutation (T14849C) in the cytochrome b gene.
Finckh, B., Smeitink, J.A.M., Schmelz, M., Trijbels, J.M.F., Janssen, A.J.M., Krude, H., Schuelke, M., Trefz, F., Mayatepek, E., Barbara Finckh, Antoon Janssen, Markus Schuelke, Ertan Mayatepek, Jan Smeitink, Friedrich Trefz, Michael Schmelz, Frans Trijbels, Heiko Krude   +17 more
core   +1 more source

Septo-optic dysplasia and unexpected adult death - An autopsy approach

, 2001
A 20-year-old woman who suffered from septo-optic dysplasia died unexpectedly following a presumed viral gastroenteritis. Autopsy and neuropathological examination confirmed optic nerve hypoplasia with absence of the septum pellucidum.
Byard, R., Gilbert, J., Scott, G.
core   +1 more source

Importance of neuroimaging in neonatal congenital anophthalmia/microphthalmia: a case report

Revista Habanera de Ciencias Médicas, 2018
Introduction: Anophthalmia/microphthalmia is a congenital eye malformation that is characterized by the variable reduction of the volume of the ocular globe, which requires imaging studies for a more precise diagnosis.Objective: To demonstrate the ...
Andrés Armando Morilla Guzmán, Jesús Rabaza Pérez, Zonia América Blanco González   +2 more
doaj  

MRI findings of an incidental ectopic posterior pituitary gland in an adult: Case report and review of T1 hyperintense lesions in the literature

Radiology Case Reports
The ectopic posterior pituitary represents a rare congenital malformation attributable to aberrant embryogenesis of the neurohypophysis. Although it may occur as an isolated anomaly, it is frequently concomitant with other congenital malformations of the
Salma Hashem, MD, Roméo Bujiriri Murhega, MD, Patient Aganze Migabo, MD   +2 more
doaj   +1 more source

Septo-Optic Dysplasia: Educational Issues [PDF]

, 2011
Ninety-nine articles published in professional journals related to septo-optic dysplasia (SOD) or the education of young blind children were reviewed by a special education teacher and parent of a blind one year old boy diagnosed with SOD.
Bailey, Stephen
core  

The clinical aspects of septo-optic dysplasia: A narrative review with illustrative case report. [PDF]

Int J Surg Case Rep, 2023
Al-Salihi MM, Qassim T, Aji N, Al-Jebur MS, Rahman MM, Ayyad A.   +5 more
europepmc   +1 more source

Standard Poster Abstracts for the 17th Asia Pacific Heart Rhythm Society (APHRS) Scientific Sessions

Journal of Arrhythmia, Volume 41, Issue 2, April 2025.
wiley   +1 more source

Sudden Death in Septo-Optic Dysplasia

, 1996
Intrauterine CNS injury and panhypopituitarism are independently associated with increased childhood mortality. We examined five children with septo-optic dysplasia who died suddenly and unexpectedly.
Michael C. Brodsky MD; D. Taylor MD; C, S. Hoyt MD; F. Conte MD; R. E. Mrak MD
core  

Selected Ophthalmological Features in Children with Septo-Optic Dysplasia and Optic Nerve Hypoplasia. [PDF]

Neuroophthalmology, 2022
Salman MS, Hossain S, Carson E, Ruth CA, Clark IH.   +4 more
europepmc   +1 more source