Results 51 to 60 of about 452 (139)
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic RNU4ATAC variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1). Methods This retrospective case series includes five prenatal cases with MOPD1.
Alexandra Liebmann +8 more
wiley +1 more source
Neuroplasticity in an Adolescent with Corpus Callosum Agenesis Associated with Epilepsy
Revista Finlay, 2021 Neural plasticity represents the brain's ability to recover and restructure itself, allowing it to recover from disorders or injuries and reduce the effects of structural alterations, whether congenital or acquired. The agenesis of the corpus callosum is
Dámaris González Vidal +2 more
doaj
Arquivos de Neuro-Psiquiatria, 1995 The agenesis and lipoma of the corpus callosum is a very rare association. We report the case of a 18-years old woman with rare epileptic seizures since the age of 6 years, normal neurological examination, as well as normal electroencephalogram.
Délrio Façanha Silva +5 more
doaj +1 more source
Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
Acta Obstetricia et Gynecologica Scandinavica, EarlyView.Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao +5 more
wiley +1 more source
Cavernous Angioma of the Corpus Callosum Presenting with Acute Psychosis
Behavioural Neurology, 2014 Psychiatric symptoms may occasionally be related to anatomic alterations of brain structures. Particularly, corpus callosum lesions seem to play a role in the change of patients’ behavior.
Giacomo Pavesi +2 more
doaj +1 more source
Clinical Endocrinology, EarlyView.ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah +6 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To characterize reported perinatal complications and childhood neurological diagnoses among children with COL4A1/2 variants and explore associations between mode of delivery and selected neurological outcomes. Method This was a retrospective cross‐sectional patient registry study using surveys collected through the Gould Syndrome ...
Shraddha Pandey +3 more
wiley +1 more source
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 +3 more
doaj +1 more source