Results 61 to 70 of about 10,101 (182)

Agenesis of the Corpus Callosum [PDF]

open access: yesAmerican Journal of Obstetrics and Gynecology, 2020
Siegfried, Rotmensch, Ana, Monteagudo
openaire   +2 more sources

Retinopathy of Prematurity Is Associated With Reduced Thalamic Volume and Impaired Neurodevelopment. A Cohort Study

open access: yesJournal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background Retinopathy of prematurity (ROP) is a neurovascular disorder that may affect not only the retina but also the brain structures involved in visual processing. The relationship between ROP severity and the volumetric development of these regions remains unclear.
Jose Uberos   +8 more
wiley   +1 more source

Cavernous Angioma of the Corpus Callosum Presenting with Acute Psychosis

open access: yesBehavioural Neurology, 2014
Psychiatric symptoms may occasionally be related to anatomic alterations of brain structures. Particularly, corpus callosum lesions seem to play a role in the change of patients’ behavior.
Giacomo Pavesi   +2 more
doaj   +1 more source

Corpus callosum agenesis and rehabilitative treatment

open access: yesItalian Journal of Pediatrics, 2010
Corpus callosum agenesis is a relatively common brain malformation. It can be isolated or included in a complex alteration of brain (or sometimes even whole body) morphology. It has been associated with a number of neuropsychiatric disorders, from subtle
Chiappedi Matteo, Bejor Maurizio
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll   +2 more
wiley   +1 more source

“Caterpillar sign” in corpus callosum associated with curvilinear pericallosal lipoma in MRI: A case report

open access: yesRadiology Case Reports
Lipoma of the corpus callosum, also known as pericallosal lipoma, is a rare congenital brain abnormality associated with corpus callosum dysgenesis or agenesis.
Kazutoshi Konomatsu   +9 more
doaj   +1 more source

Agenesis and lipoma of corpus callosum: Case report Agenesia e lipoma de corpo caloso: relato de caso

open access: yesArquivos de Neuro-Psiquiatria, 1995
The agenesis and lipoma of the corpus callosum is a very rare association. We report the case of a 18-years old woman with rare epileptic seizures since the age of 6 years, normal neurological examination, as well as normal electroencephalogram.
Délrio Façanha Silva   +5 more
doaj   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

open access: yesClinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda   +10 more
wiley   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

open access: yesClinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen   +9 more
wiley   +1 more source

Agenesis of the corpus callosum.

open access: yesSouth African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2000
Agenesis of the corpus callosum is not particularly common; its incidence in institutions where a great number of air encephalographic studies are done is said to be 3 %. It is probable that a number of the cases are not reported.
openaire   +2 more sources

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