Results 41 to 50 of about 10,187 (227)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Successful prism treatment for cyclic esotropia: A case report

open access: yesAmerican Journal of Ophthalmology Case Reports
Purpose: To report a case of cyclic esotropia successfully treated with prismatic correction. Observations: A 9-year-old girl presented with intermittent esotropia and diplopia occurring over the previous 4 months.
Noriko Nishikawa   +4 more
doaj   +1 more source

Two Pediatric Patients with Acute Acquired Comitant Esotropia as the First Symptom of Brainstem Tumor: A Case Report

open access: yesCase Reports in Ophthalmology, 2023
Introduction: Acute acquired comitant esotropia (AACE) is an acquired strabismus with uncrossed sudden-onset diplopia due to esodeviation, comitant esotropia without accommodation factor, or paretic eye movement.
Ayaka Yagasaki   +9 more
doaj   +1 more source

Familial p.(Ala73Thr) Variant in GNB2 Associated With Mild Neurodevelopmental Features and Pilocytic Astrocytoma

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Pathogenic variants in GNB2 have been associated with a neurodevelopmental disorder that includes global developmental delays and intellectual disability, hypotonia, increased risk for seizures, heart and renal anomalies, and characteristic facial features.
Megan Glassford   +2 more
wiley   +1 more source

Use of atropine to predict the accommodative component in esotropia with hypermetropia

open access: yesIndian Journal of Ophthalmology, 2011
This cohort study included children with esotropia and hypermetropia of ≥ +2.0 diopters (D). The deviation was measured at presentation, under atropine cycloplegia and 3 months after full refractive correction. Of 44 children with a mean age of 5.2 ± 2.4
Mihir Kothari   +2 more
doaj   +1 more source

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca   +7 more
wiley   +1 more source

Cyclic esotropia

open access: yesActa Médica del Centro, 2008
Cyclic esotropia is a very rare form of esotropia, a particular clinical form of deviation related to the circadian cycle or biological clock. It is an acquired esotropia occurring in patients of all ages, though it is more frequent between 2 and 6 years
Ana Isabel Santana Machado   +2 more
doaj  

Acute acquired comitant esotropia precipitated by excessive near work during the COVID-19-induced home confinement

open access: yesIndian Journal of Ophthalmology, 2022
Purpose: To evaluate the causes of acute acquired comitant esotropia (AACE) in young adults and children in the setting of COVID-19-induced home confinement.
RNeena, SRemya, GiridharAnantharaman
doaj   +1 more source

Spontaneous consecutive esotropia [PDF]

open access: yesEye, 2018
Although less frequent than consecutive exotropia, consecutive esotropia is a well-known type of strabismus when it follows the surgical correction of an exotropia. Spontaneous conversion from initial constant, large-angle exotropia beyond the age of 3 months to esotropia or orthophoria, however, is not common.
Nathalie Voide, Matthieu P. Robert
openaire   +2 more sources

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 5, Page 875-887, May 2026.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz   +3 more
wiley   +1 more source

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