Results 61 to 70 of about 13,664 (269)
Indian Journal of OphthalmologyPurpose: To describe the demographics and clinical profile of exotropia from patient data obtained from a multi-tiered ophthalmology hospital network in India.
Sampada Kulkarni +4 more
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Exotropia in a pediatric patient with rhabdomyolysis caused by an insect sting
Indian Journal of Ophthalmology, 2017 Various ocular and systemic reactions have been associated with insect sting. However, insect stings have been rarely reported to cause exotropia and diplopia.
Won Jae Kim, Saeyoon Kim, Myung Mi Kim
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Case report: Exotropia in waardenburg syndrome with novel variations
Frontiers in Genetics, 2022 Background: Waardenburg syndrome (WS) is a rare genetic disorder characterized by congenital sensorineural hearing loss and pigmentary abnormalities of the hair, skin and eyes. However, exotropia is rarely reported.
Lijuan Huang +6 more
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Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää +14 more
wiley +1 more source
Current Trends – Intermittent Exotropia Management
Delhi Journal of Ophthalmology, 2011 Intermittent exotropia is a divergent form of strabismus that manifest sometimes and controlled by fusion other times. While the exact aetiology of most exodeviations is unknown, proposed causes include anatomic and mechanical factors with in orbit as ...
Pradeep Agarwal
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source
Congenital double elevator palsy with sensory exotropia: A unique surgical management
Journal of Ophthalmic & Vision Research, 2017 Purpose: To report a unique surgical approach for congenital double elevator palsy with sensory exotropia. Case Report: A 7-year-old boy with congenital double elevator palsy and sensory exotropia was managed surgically by Callahan's procedure with ...
R C Nagpal, Anuradha Raj, Amit Maitreya
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Clinical Genetics, EarlyView.To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum +13 more
wiley +1 more source
Delhi Journal of Ophthalmology, 2021 Purpose: To study the different types of concomitant strabismus and associated refractive errors in children and adolescents. Material & Methods: In this observational study, 178 patients aged between 4-19 yrs with concomitant strabismus of ≥ 15 Prism ...
Anupam Singh +7 more
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