Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome with moderate to severe mental retardation and no previously identified brain abnormalities. We describe the seventh case and note dysgenesis of the corpus callosum in this patient.
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http://dx.doi.org/10.1002/(sici)1096-8628(20000320)91:3<198::aid-ajmg8>3.0.co;2-4 | DOI Listing |
Am J Perinatol
January 2025
Department of Pediatrics, Division of Neonatology, Oregon Health & Science University, Portland, United States.
Objective: To determine the prevalence of septo-optic-dysplasia (SOD) in patients with prenatally identified absent cavum septi pellucidi (CSP), agenesis of the corpus callosum (ACC) or dysgenesis of the corpus callosum (DCC).
Study Design: This retrospective chart review investigated neonates prenatally diagnosed with an absent CSP, ACC, or DCC who were admitted to a single quaternary academic medical center in the Pacific Northwest between 2016-2023. This prenatal diagnosis prompted a routine and protocolized postnatal workup for SOD including laboratory evaluation, imaging, and specialty consultation.
BMJ Open
January 2025
IRCCS Mondino Foundation, Pavia, Italy
Introduction: Children with septo-optic-pituitary dysplasia (SOD) may experience a range of visual impairments and hormonal dysfunctions beyond developmental delay/intellectual disability. The literature describes sleep fragmentation, circadian rhythm disruptions and reduced sleep efficiency. These manifestations are believed to be closely linked to both structural and functional abnormalities associated with SOD, potentially disrupting the natural circadian rhythm.
View Article and Find Full Text PDFEpilepsy Res
January 2025
Fuller Graduate School of Psychology, Travis Research Institute, Pasadena, CA 91101, United States; International Research Consortium for the Corpus Callosum and Cerebral Connectivity (IRC5), Pasadena, CA 91106, United States; California Institute of Technology, Division of Humanities and Social Sciences, Pasadena, CA 91125, United States. Electronic address:
Background And Aims: For young children with intractable epilepsy caused by congenital abnormalities or acquired cortical lesions, pediatric hemispherectomy surgery (pHS) may offer the only path to seizure remediation. Although some sensory and motor outcomes of pHS are highly predictable, the long-term cognitive and functional sequelae of pHS are far more variable. With the aim of identifying potential post-pHS intervention targets, the current study examined daily executive functioning and self-awareness in adults with pHS and broadly intact cognitive outcomes (indicated by average or above performance on intelligence tests).
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
General Hospital of Ningxia Medical University, Yinchuan, Ningxia 750004, China.
Objective: To explore the clinical phenotype, pregnancy outcome and follow-up of fetuses with 15q11.2BP1-BP2 microdeletions in order to provide a basis for prenatal and reproductive consultation.
Methods: From March 2019 to December 2023, 20 fetuses who were diagnosed with 15q11.
Clin Neurol Neurosurg
December 2024
Department of Anatomy, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India. Electronic address:
Background: The complex structure and function of the cerebrum make it a key focus in neuroscience research. It develops from telencephalic vesicles through processes such as cell growth, division, and migration from the neuroepithelium's ventricular matrix, forming the six-layered isocortex or neocortex. Multipotent neuroepithelial cells give rise to both neuronal and glial precursors, which populate the cerebral cortex.
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