Results 71 to 80 of about 11,659 (210)

Partial 13 monosomy with corpus callosum agenesis and other congenital abnormalities – a case report [PDF]

, 2018
University of Medicine and Pharmacy of Targu Mures, RomaniaBackground. The corpus callosum comprises the largest tract of nerve fibres in the human brain. It is developed from the telencephalon starting in the 11th week of foetal life.
Miron, Andreea-Iuliana, Jugariu, Anamaria-Romina, Budeanu, Razvan-Gabriel, Katona, Timea, Băetu, Alexandru-Emil   +4 more
core  

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Agenesis of the corpus callosum and autism: a comprehensive comparison [PDF]

, 2014
The corpus callosum, with its ∼200 million axons, remains enigmatic in its contribution to cognition and behaviour. Agenesis of the corpus callosum is a congenital condition in which the corpus callosum fails to develop; such individuals exhibit ...
Adolphs, Ralph, Corsello, Christina, Paul, Lynn K., Kennedy, Daniel P.   +3 more
core  

Cavernous Angioma of the Corpus Callosum Presenting with Acute Psychosis

Behavioural 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, Francesco Causin, Alberto Feletti   +2 more
doaj   +1 more source

Corpus callosum agenesis in morphoclinical aspect [PDF]

Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, Chişinău, Republica MoldovaIntroduction. Agenesis of the corpus callosum (ACC) is a congenital brain anomaly, characterized by the absence of commissural fibers connecting the two large
Rotaraș, Arina
core  

Agenesis of the Corpus Callosum [PDF]

American Journal of Obstetrics and Gynecology, 2020
Siegfried, Rotmensch, Ana, Monteagudo
openaire   +2 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Corpus callosum agenesis and rehabilitative treatment

Italian 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

Fetal Presentation of Walker–Warburg Syndrome With a Novel POMT1 Splice‐Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Walker–Warburg syndrome (WWS) is a fatal autosomal recessive disorder characterized by brain and eye malformations, and prenatal diagnosis relies heavily on neuroimaging findings to guide targeted genetic screening. Here, we describe a distinctive second‐trimester fetal imaging pattern observed in two siblings.
Jing Zhang, Pin Wang, Gan Tian, Yu Hu, Xin Zhang, Xiang Huang, Xiaoqiang Zhou, Peng Huang, Fengying Chen   +8 more
wiley   +1 more source

Joubert syndrome with associated corpus callosum agenesis

, 2002
In 1969, Joubert et al. studied a family where four of six children had a severe clinical condition with episodic alternate hyperpnoea and apnoea, hypotonia, ataxia, psychomotor delay, and abnormal ocular movements.
REGNICOLO L, ZAMPONI N, MESSORI A, POLONARA, GABRIELE, ROSSI B, CARDINALI C.   +5 more
core   +1 more source