Results 61 to 70 of about 452 (139)
Agenesis of the Corpus Callosum [PDF]
American Journal of Obstetrics and Gynecology, 2020 Siegfried, Rotmensch, Ana, Monteagudo
openaire +2 more sources
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Background Retinopathy of prematurity (ROP) is a neurovascular disorder that may affect not only the retina but also the brain structures involved in visual processing. The relationship between ROP severity and the volumetric development of these regions remains unclear.
Jose Uberos +8 more
wiley +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 +2 more
wiley +1 more source
Radiology Case ReportsLipoma of the corpus callosum, also known as pericallosal lipoma, is a rare congenital brain abnormality associated with corpus callosum dysgenesis or agenesis.
Kazutoshi Konomatsu +9 more
doaj +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 +10 more
wiley +1 more source
Corpus callosum agenesis: Role of fetal magnetic resonance imaging
Asian Pacific Journal of Reproduction, 2016 Corpus callosum agenesis (CCA) was evaluated by ultrasound examination and magnetic resonance imaging (MRI) with many studies. Ultrasonography was able to suspect CCA by indirect signs but a definitive diagnosis of CCA was achieved in rare cases. MRI was
Achour Radhouane, Neji Khaled
doaj +1 more source
Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen +9 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
Agenesis of the corpus callosum.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2000 Agenesis of the corpus callosum is not particularly common; its incidence in institutions where a great number of air encephalographic studies are done is said to be 3 %. It is probable that a number of the cases are not reported.
openaire +2 more sources
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1719-1725, August 2026.ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source