Results 81 to 90 of about 11,607 (215)

Educational and emotionally-adaptive deficits in agenesis of corpus callosum [PDF]

, 2016
The thesis deals with educational and emotionally adaptive deficits in specific brain disorders, agenesis of corpus callosum. Here is a case study of fifteen-year-old boy, with this specific disorder found in his brain.
Podobnik, Nina
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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

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
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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
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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

Prenatal and postnatal evaluation of polymicrogyria with band heterotopia

Radiology Case Reports, 2017
The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly.
Usha D. Nagaraj, MD, Robert Hopkin, MD, Mark Schapiro, MD, Beth Kline-Fath, MD   +3 more
doaj   +1 more source

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

The effect of corpus callosum agenesis on the communication between cerebral hemispheres

, 2021
: Agenesis of the corpus callosum is the lack of the development of the corpus callosum. This condition can lead to impairments in language processing, epilepsy, and emotion and social functioning, but many individuals with this condition do not show any

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

Radiology 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, Yosuke Kakisaka, Shiho Sato, Takafumi Kubota, Temma Soga, Kazushi Ukishiro, Kazutaka Jin, Shunji Mugikura, Masashi Aoki, Nobukazu Nakasato   +9 more
doaj   +1 more source