Results 161 to 170 of about 97,105 (315)
Aniridia and Optic Nerve Hypoplasia
, 2003 The occurrence of optic nerve hypoplasia in patients with aniridia has been described in several reports; however, our knowledge regarding frequency is limited.
Timothy J. McCulley; Kristine Mayer; Edward J. Holland
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Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review
Movement Disorders Clinical Practice, EarlyView.Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes +6 more
wiley +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan +14 more
wiley +1 more source
Ventricular Interdependence in Isolated Right Ventricular Hypoplasia. [PDF]
JACC Case RepJung H, Zaidi SJ.
europepmc +1 more source
H89 Occipital Hemianoptic Hypoplasia
Diagram of homonymous hemioptic hypoplasia showing pattern of preserved nerve fibers. Homonymous hemioptic hypoplasia. Fundoscopic features in standard and red-free illumination in three patients with congenital hemiplegia. Anatomy: Optic disc. Pathology:
William F. Hoyt, MD
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Walsh & Hoyt: Optic Nerve Hypoplasia
, 2005 Optic nerve hypoplasia is an anomaly that, until recently, escaped the scrutiny of even the most meticulous observers. It was not until the late 1960s that its clinical description became commonplace. Optic nerve hypoplasia is now unquestionably the most
Michael C. Brodsky, MD
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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 +6 more
wiley +1 more source
, 2002 Maxillary sinus hypoplasia (MSH) is an uncommonly, encountered condition by otolaryngologists. Pie computerized tomography (CT) scans provide valuable data about the anatomic details of the paranasal sinuses. MSH may, be misdiagnosed as an infection or a
Aktas, D +4 more
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Neuroprotection, EarlyView.Abstract Aim Aromatase is the key enzyme in the biosynthesis of 17β‐estradiol, the most potent estrogen, which has pleiotropic neuroprotective properties. Aromatase levels increase in the brain after stroke, and its gene variants increase susceptibility to stroke. This study aims to determine whether aromatase overexpression improves stroke outcome and
Lindsay Gallagher +8 more
wiley +1 more source
Chiari malformation type 0: methodological concerns regarding the null structural finding. [PDF]
Acta Neurochir (Wien)Bogdanov EI, Heiss JD, Faizutdinova AT.
europepmc +1 more source