Results 91 to 100 of about 988,363 (212)

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

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

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
core  

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

Agenesis of the Corpus Callosum [PDF]

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

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3037-3048, September 2026.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Proud Syndrome: A Rare Cause of Corpus Callosum Agenesis. [PDF]

Cureus, 2023
Devi R, Chaurasia S, Priyadarshi M, Singh P, Basu S.   +4 more
europepmc   +1 more source

Alternate Seizure Spread with Agenesis of the Corpus Callosum.

, 2021
Agenesis of the corpus callosum is a brain malformation that can occur in isolation or in conjunction with other congenital or developmental defects. The clinical sequelae of this condition include epilepsy, cognitive deficits, developmental delay, and ...
Velagapudi, Lohit, Wu, Chengyuan, MD, Matias, Caio M, Nei, Maromi, Sperling, Michael R, Ambrose, Timothy M, Sharan, Ashwini D   +6 more
core   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Pediatric Neurology Briefs, 2003
The epidemiological, clinical, and molecular genetic aspects of hereditary motor and sensory neuropathy and agenesis of the corpus callosum (HMSN/ACC) are reviewed by neurologists at McGill University, Montreal, Canada.
J Gordon Millichap
doaj   +1 more source