Results 61 to 70 of about 44,744 (292)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Combined Papillectomy and Autologous Conjunctival Membrane Graft as Management of Giant Papillae for Severe, Refractory Palpebral Vernal Keratoconjunctivitis—A Case Report

Case Reports in Ophthalmological Medicine
Conclusion: The management of VKC necessitates a comprehensive approach involving preventive measures, pharmacological treatment, and surgical interventions for refractory cases. This case highlights the potential benefits of surgical techniques, such as
Devina Nur Annisa, Hernawita Suharko, Hasiana Lumban Gaol, Viona Viona   +3 more
doaj   +1 more source

Prevalence of Strabismus among Patients Attending Basrah Teaching Hospital, Basrah, Iraq [PDF]

Al-Anbar Medical Journal
Background: Strabismus is a relatively widespread disorder. However, there is no local relevant study examined its prevalence.Objectives: To measure the prevalence and types of strabismus.Materials and methods: The study was a hospital-based cross ...
Mohammed Al Ashoor, Hamid Al Taha
doaj   +1 more source

The consequences of strabismus and the benefits of adult strabismus surgery [PDF]

, 2016
Strabismus has a negative impact on patients’ lives regardless of their age. Factors such as self-esteem, relationships with others, education and the ability to find employment may all be negatively affected by strabismus.
McGraw, Paul V., Foulsham, Tom, Astle, Andrew T, McGraw, Paul V, Astle, Andrew T., Foulsham, Thomas   +5 more
core  

Self-Reported Findings of the Korean Intermittent Exotropia Multicenter Study Questionnaire [PDF]

Purpose: To determine subjective symptoms and medical history of patients with intermittent exotropia in a large study population. Methods: The Korean Intermittent Exotropia Multicenter Study (KIEMS) is a nationwide, observational, cross-sectional ...
Gye, HJ, Yang, HK, Lee, HJ, Park, SH, Lim, KH, the Korean Association of Pediatric Ophthalmology and Strabismus (KAPOS), Kim, SY, Shin, SY   +7 more
core   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Pattern Strabismus: Where Does the Brain's Role End and the Muscle's Begin?

Journal of Ophthalmology, 2013
Vertically incomitant pattern strabismus comprises 50% of infantile horizontal strabismus. The oblique muscle dysfunction has been associated with pattern strabismus.
Fatema F. Ghasia, Aasef G. Shaikh
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Characteristics of Anisometropic Patients with and without Strabismus

Türk Oftalmoloji Dergisi, 2018
Objectives: To evaluate the risk factors for strabismus in patients with anisometropia by comparing degree of anisometropia, depth of amblyopia, and binocular visual function in anisometropic patients with and without strabismus.
Reşat Duman, Huban Atilla, Emine Çatak
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source