Results 61 to 70 of about 50,007 (274)
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Treatment of Nystagmus and Saccadic Oscillations [PDF]
, 2012 Nystagmus is often encountered in neuro-ophthalmic practice, having a prevalence of about 24 per 10,000 in the general population. Unlike physiologic nystagmus, where the slow phases of nystagmus serve to minimize retinal image slip, the slow phases of ...
Matthew Thurtell, Mbbs, fRaCP
core
The Ups and Downs of Infantile Nystagmus Syndrome in Adulthood [PDF]
, 2021 Infantile nystagmus syndrome (INS) is a common cause of abnormal eye movements during childhood. However, INS might reach adulthood unnoticed and mimic acquired forms of jerk nystagmus. We aimed to highlight the pitfalls of INS diagnosis in adulthood, by
André Jorge; Ana Inês Martins; João Lemos
core
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
, 2019 Nystagmus is an involuntary rhythmical movement of the eyes. The cause of nystagmus is a disruption in the afferent, central or efferent parts of the eye movement system.
Bohač, Maja +9 more
core +1 more source
Oculomotor Abnormalities in Large Cerebellopontine Angle Tumors: A Case Series of Bruns’ Nystagmus
B-ENT, 2022 Patients with large or giant large cerebellopontine angle lesions can present with a wide range of audiovestibular symptoms, including Bruns’ nystagmus.
Giada Bilotta +7 more
doaj +2 more sources
VertiGo – a pilot project in nystagmus detection via webcam
Current Directions in Biomedical Engineering, 2020 Dizziness is one of the most common symptoms in medicine. For differentiation of peripheral or central origin of the vertigo, history and clinical examination with detection of a nystagmus is essential.
Reinhardt Sophia +4 more
doaj +1 more source
OTO Open, 2022 Benign paroxysmal positional vertigo of the horizontal semicircular canal may present a differential diagnostic challenge. In addition to the classical positional nystagmus, a persistent nystagmus in a seated position occasionally occurs, so-called ...
Felix K. Schwarz MD +3 more
doaj +1 more source
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
Fixation eye movement abnormalities and stereopsis recovery following strabismus repair
Scientific Reports, 2021 We evaluated the effects of strabismus repair on fixational eye movements (FEMs) and stereopsis recovery in patients with fusion maldevelopment nystagmus (FMN) and patients without nystagmus.
Talora L. Martin +5 more
doaj +1 more source