refractive errors/seizures

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Performance of Plusoptix A09 Photo Screener in Refractive Error Screening in School Children Aged between 5 and 15 Years in the Southern Part of India

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Purpose: To evaluate the performance of Plusoptix A09 in detecting ametropia, warranted against frequently-used technique of retinoscopy in children attending school (5-15 years) and its probability as a screening tool.

[A case of ring 14 chromosome with ocular manifestations].

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BACKGROUND Ring 14 chromosome has been reported to be associated with mental retardation, craniofacial dysmorphology, and epilepsy. Flecked and/or pigmented retina are also ocular manifestations of this disease. METHODS A 29-year-old female suffered from seizures and developmental and growth delay.

Ocular manifestations in Wolf-Hirschhorn syndrome.

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BACKGROUND Wolf-Hirschhorn syndrome (WHS) multiple congenital anomalies/mental retardation is caused by partial deletion of the short arm of chromosome 4 and can be considered a contiguous gene syndrome, characterized by typical facial appearance, mental retardation, growth delay, and

The eye care profile and outcomes of multi-handicapped adults residing in Wayne County, Michigan group homes.

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BACKGROUND Patients with multi-handicaps present clinical challenges and are underserved. Central nervous system dysfunction and ocular disorders with this population are prevalent and well-documented. However, vision care outcomes data are limited and specific visual function recommendations to

Aymé-Gripp Syndrome

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Aymé-Gripp syndrome is classically defined as the triad of bilateral early cataracts, sensorineural hearing loss, and characteristic facial features in combination with neurodevelopmental abnormalities. The facial features are often described as "Down syndrome-like" and

GeneReviews®

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Au-Kline syndrome is characterized by developmental delay and hypotonia with moderate-to-severe intellectual disability, and typical facial features that include long palpebral fissures, ptosis, shallow orbits, large and deeply grooved tongue, broad nose with a wide nasal bridge, and

[Is attention deficit hyperactivity disorder associated with other prevalent pathologies of early childhood?].

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OBJECTIVE To determine whether attention deficit hyperactivity disorder (ADHD) is associated with other prevalent medical pathologies of the paediatric age. METHODS Several paediatric pathologies were selected with the aim of reviewing their association with ADHD: in paediatric pulmonology, asthma

THOC6 Intellectual Disability Syndrome

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Clinical characteristics: THOC6 intellectual disability syndrome is associated with moderate-to-severe developmental delay or intellectual disability; nonspecific dysmorphic facial features (tall forehead, deep-set eyes, short and

GeneReviews®

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CLINICAL CHARACTERISTICS

ARID1B-related disorder (ARID1B-RD) constitutes a clinical continuum, from classic Coffin-Siris syndrome to intellectual disability with or without nonspecific dysmorphic features. Coffin-Siris syndrome is classically characterized by

A clinical study of 77 patients with mucopolysaccharidosis type II.

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OBJECTIVE This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). METHODS Details of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients and/or

A multidisciplinary approach to the management of individuals with fragile X syndrome.

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BACKGROUND Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Since the identification of the responsible gene (FMR1) and its protein (FMRP), there has been enormous progress in both clinical and pathogenetic research on the neurobehavioural aspects of the

Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.

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Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants

GeneReviews®

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Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals and a wide spectrum of functional and morphologic abnormalities. Intrauterine growth restriction or low birth weight and feeding

GeneReviews®

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CLINICAL CHARACTERISTICS

EED-related overgrowth is characterized by fetal or early childhood overgrowth (tall stature, macrocephaly, large hands and feet, and advanced bone age) and intellectual disability that ranges from mild to severe. To date, EED overgrowth has

Assessment of visual function in autistic children.

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Children with autism demonstrate "atypical" gaze or social "looking" and frequently manifest such sterotypies as eye pressing, hand flicking, and light gazing. This study's purpose was to evaluate autistic children for visual dysfunction that may be related to the manifested visual signs and

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