Results 71 to 80 of about 452 (139)

Incidentally Identified Open‐Lip Schizencephaly in an Adult With Schizoaffective Disorder: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Open‐lip schizencephaly may remain undiagnosed until adulthood and can be incidentally identified during evaluation for unrelated presentations. This case highlights the coexistence of congenital neurodevelopmental abnormalities and schizoaffective disorder in an adult patient, while emphasizing the diagnostic complexity of interpreting ...
Saachi Bhattessa, Shrinkhala Pokhrel, Utsav Pokharel, Pritam Neupane   +3 more
wiley   +1 more source

Complete Corpus Callosum Agenesis: Can It Be Mild?

Case Reports in Pediatrics, 2012
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.
Matteo Chiappedi, Anna Fresca, Ilaria Maria Carlotta Baschenis   +2 more
doaj   +1 more source

Callosal Agenesis and Interhemispheric Cysts

Pediatric Neurology Briefs, 2001
Imaging studies of 25 cases of agenesis of the corpus callosum with interhemispheric cyst were retrospectively reviewed at the University of California, San Francisco, and Harvard Medical School, Boston.
J Gordon Millichap
doaj   +1 more source

Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes‐Related Neurological Disorders

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
CRC‐related neurological disorders are mainly caused by variants in the CHD and BAF complex. The predominant phenotypes of CRC‐related neurological disorders were GDD/ID and epilepsy. Variants in the CHD and BAF complexes have different phenotypes.
Shimeng Chen, Fei Yin, Fang He, Ciliu Zhang, Xiaolu Deng, Lifen Yang, Li Yang, Chen Chen, Fangyun Liu, Jing Peng   +9 more
wiley   +1 more source

Meier-Gorlin syndrome with ventriculomegaly and hypoplastic corpus callosum: a rarely reported congenital malformation

Journal of Pediatric and Neonatal Individualized Medicine, 2016
Meier-Gorlin syndrome (MGS) or ear-patella-short stature syndrome (MIM 224690) is a rarely reported autosomal recessive disorder having characteristic triad of microtia, short stature and aplastic or hypoplastic patella. Only 67 cases are reported.
Nabanita Kora, Kaustav Nayek, Baisakhi Soren, Rajib Das   +3 more
doaj   +1 more source

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu, Xueqin Cheng, Bixia Zheng, Chunli Wang, Wei Zhou, Aihua Zhang   +5 more
wiley   +1 more source

Corpus Callosum Agenesis and Osseous Lesions

Pediatric Neurology Briefs, 1993
A new mental retardation syndrome with agenesis of the corpus callosum and unusual bone changes is reported from the Departments of Radiology and Neurology, Royal Alexandra Hospital for Children, Camperdown, Sydney, NSW, Australia.
J Gordon Millichap
doaj   +1 more source

Agenesis of the Corpus Callosum [PDF]

Postgraduate Medical Journal, 1965
J N, HARCOURT-WEBSTER, J H, RACK
openaire   +2 more sources

Diagnostic Challenges in Choroid Plexus Tumours

Neuropathology and Applied Neurobiology, Volume 52, Issue 4, August 2026.
In this review, we summarise the diagnostic spectrum of choroid plexus tumours, highlight key age‐dependent differential diagnoses across infants, children/adolescents and adults, and outline how histopathology, immunohistochemistry and molecular profiling support accurate tumour classification.
Christian Thomas, Martin Hasselblatt
wiley   +1 more source

A selective defect in the glial wedge as part of the neuroepithelium disruption in hydrocephalus development in the mouse hyh model is associated with complete corpus callosum dysgenesis

Frontiers in Cellular Neuroscience
IntroductionDysgenesis of the corpus callosum is present in neurodevelopmental disorders and coexists with hydrocephalus in several human congenital syndromes.
Luis-Manuel Rodríguez-Pérez, Luis-Manuel Rodríguez-Pérez, Javier López-de-San-Sebastián, Isabel de Diego, Aníbal Smith, Ruth Roales-Buján, Antonio J. Jiménez, Antonio J. Jiménez, Patricia Paez-Gonzalez, Patricia Paez-Gonzalez   +9 more
doaj   +1 more source