Results 51 to 60 of about 988,363 (212)

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

A Neuropsychological Profile for Agenesis of the Corpus Callosum?: Cognitive, Academic, Executive, Social, and Behavioral Functioning in School-Age Children [PDF]

, 2018
Objectives: Agenesis of the corpus callosum (AgCC), characterized by developmental absence of the corpus callosum, is one of the most common congenital brain malformations.
Vanessa Siffredi, Richard J. Leventer, Anderson, Vicki A., Alissandra McIlroy, Leventer, Richard J, Siffredi, Vanessa, Wood, Amanda, Vicki Anderson, Spencer-Smith, Megan, McIlroy, Alissandra, Amanda G. Wood, Megan M. Spencer-Smith   +11 more
core   +1 more source

Agenesis of the corpus callosum associated with hereditary syndromes

Анналы клинической и экспериментальной неврологии, 2017
: Agenesis of the corpus callosum (ACC) is detected in patients with cerebral dysgenesis associated with various hereditary syndromes. It is conventionally subdivided into total (the absence of commissural fibers) and partial (agenesis of the rostral and
Olga A. Milovanova, Tat'yana Yu. Tarakanova, Yuliya B. Pronicheva, Lyubov' P. Katasonova, Salbakay Kx. Biche-Ool, Tat'yana E. Vorozhbieva   +5 more
doaj   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
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
core   +1 more source

Anomalies of the Corpus Callosum in Prenatal Ultrasound: A Narrative Review for Diagnosis and Further Counseling

Journal of Medical Ultrasound
The corpus callosum is the major interhemispheric tract that plays an important role in neurological function. Understanding the etiology and embryology development helps the ultrasound diagnosis for disorders of the corpus callosum and further ...
Fang-Tzu Wu, Chih-Ping Chen
doaj   +1 more source

A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

Molecular Cytogenetics, 2011
Background Partial Trisomy 11q syndrome (or Duplication 11q) has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD).
Lall Meena, Thakur Seema, Puri Ratna, Verma Ishwar, Mukerji Mithali, Jha Pankaj   +5 more
doaj   +1 more source

Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Trisomy 21 (T21) is associated with various neurological impairments. However, the mechanisms of fetal brain development in T21 and their impact on neurodevelopmental outcomes remain unclear, limiting prenatal counseling. Therefore, this study aims to assess neuropathological changes in fetuses with T21 and the associated ...
Christina Haberl, Pilar Palmrich, Eva Karner, Patric Kienast, Sarah Glatter, Florian Heinzl, Philipp Moser, Daniela Prayer, Gregor Kasprian, Julia Binder   +9 more
wiley   +1 more source

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   +1 more source

Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum

Frontiers in Genetics, 2019
Agenesis of the corpus callosum (ACC) is a birth defect in which the corpus callosum is either partially or completely missing. With recent advances in prenatal ultrasound, detection of ACC in obstetric practices is becoming more common.
Ying Jiang, Ye-Qing Qian, Meng-Meng Yang, Qi-Tao Zhan, Yuan Chen, Fang-Fang Xi, Matthew Sagnelli, Min-Yue Dong, Bai-Hui Zhao, Qiong Luo   +9 more
doaj   +1 more source