Results 31 to 40 of about 10,838 (199)
Taiwanese Journal of Obstetrics & Gynecology, 2012 Objective: To present a prenatal diagnosis of microdeletion 16p13.11 with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly.
Pi-Lin Sung +8 more
doaj +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Maternal-Fetal Medicine, 2020 . Objective:. To assess the value of magnetic resonance imaging (MRI) in fetal lateral ventriculomegaly diagnosed with ultrasound, and to study the relationship between the degree of isolated lateral ventriculomegaly and neonatal prognosis. Methods:. The
Xiao-Min Zhao +6 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc +7 more
wiley +1 more source
BiomedicinesThe widening of the vestibular dimension of lateral ventricles > 10 mm should be considered a symptom rather than a definitive diagnosis. In fact, fetal ventriculomegaly (VM) is a defect with ’multifaceted‘ clinical consequences in the child’s further ...
Mateusz Zamłyński +3 more
doaj +1 more source
Frontiers in Neurology, 2018 We report a successful bilateral globus pallidus internus-deep brain stimulation (GPi-DBS) for a Parkinson disease (PD) patient with idiopathic normal pressure hydrocephalus (INPH) and an unusually long anterior commissure-posterior commissure (AC-PC ...
Carlos Guevara +8 more
doaj +1 more source
A case report of Arnold Chiari type 1 malformation in Acromesomelic dwarf infant
The Pan African Medical Journal, 2021 Arnold Chiari malformation is one of the commonest cause of congenital hydrocephalus. Cause of fetal development of cerebellar tonsils remains unknown and may be diagnosed at later in life. The association of Arnold Chiari malformation with acromesomelic
Miteshkumar Rajaram Maurya +2 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
Fluids and Barriers of the CNSObjective Ventriculomegaly and hydrocephalus are frequently found during routine clinical imaging, and hydrocephalus in dogs has been shown to alter brain tissue.
Tom Cornelius Cyriacks +6 more
doaj +1 more source
A guide to neuromodulation in drug‐resistant epilepsy
Epileptic Disorders, EarlyView.Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh +10 more
wiley +1 more source