Results 51 to 60 of about 2,305,085 (281)
Purpose The purpose of this study was to determine the effect of unilateral large lateral rectus (LR) recession on head turn and horizontal ocular deviation in patients with unilateral exotropic Duane retraction syndrome.
Mohamed F Farid +2 more
doaj +1 more source
Intracranial lipomas (IL) are very uncommon congenital malformations. Frequently are associated with various brain anomalies as agenesis or dysgenesis of the adjacent structures like corpus callosum or cortical dysplasia.Some IL are asymptomatic ...
Gonçalo Januário
semanticscholar +1 more source
Background: The management of Duane retraction syndrome (DRS) is challenging and may become more difficult if an associated accommodative component due to high hyperopia is present. The purpose of this study is to review clinical features and outcomes in
Ramesh Kekunnaya +2 more
doaj +1 more source
A novel insertion from chromosome 18 to chromosome 15 with a 183Kb 18q deletion [PDF]
Chromosome 18q- syndrome is a rare chromosomal disorder with an incidence of 1 in 40 000 live births. The phenotype is highly variable, depending on the amount of deleted genetic material, and is characterized by mental retardation, developmental delay ...
Botelho, Pedro +7 more
core +1 more source
Background Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the ...
Emiy Yokoyama +9 more
doaj +1 more source
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari +7 more
wiley +1 more source
Cryptococcal choroiditis in advanced AIDS with clinicopathologic correlation. [PDF]
PurposeTo describe a case of disseminated cryptococcal meningitis with multifocal choroiditis and provide optical coherence tomography (OCT) findings correlated with described histopathology in a patient with advanced acquired immunodeficiency syndrome ...
Aderman, Christopher M +5 more
core +2 more sources
Fourth Cranial Nerve Palsy and Brown Syndrome: Two Interrelated Congenital Cranial Dysinnervation Disorders? [PDF]
Based on neuroimaging data showing absence of the trochlear nerve, congenital superior oblique palsy is now classified as a congenital cranial dysinnervation disorder.
Brodsky, Michael +1 more
core
Intraoperative length and tension curves of human eye muscles. Including stiffness in passive horizontal eye movement in awake volunteers [PDF]
Intraoperative continuous-registration length and tension curves of attached and detached eye muscles were made in 18 strabismic patients under general anesthesia. For relaxed eye muscles, we found an exponential relation between length and tension.
Dijk, B. (Bob) van +3 more
core +2 more sources
ABSTRACT The lingering effects of COVID‐19 may impair survivors' long‐term health‐related quality of life (HRQoL). However, multicentre studies focusing on the Omicron variant, particularly in middle‐ and low‐income settings, are scarce. We conducted a prospective cohort study across 24 Brazilian hospitals between December 2021 and March 2024, when ...
Geraldine Trott +55 more
wiley +1 more source

