Results 41 to 50 of about 31,890 (276)

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Exotropia Is the Main Pattern of Childhood Strabismus Surgery in the South of China: A Six-Year Clinical Review

Journal of Ophthalmology, 2016
Purpose. To evaluate the distribution pattern and changes of strabismus surgery in children based on the data collected from a local eye hospital in the south of China between 2006 and 2011. Methods.
Xinping Yu, Zhouduo Ji, Huanyun Yu, Meiping Xu, Jinling Xu   +4 more
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.
Astle, Andrew T., Foulsham, Thomas, McGraw, Paul V.   +2 more
core  

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

The perception of strabismus by children and adults [PDF]

, 2018
Background: Visible strabismus has been shown to have adverse psychosocial consequences. It remains controversial if esotropia or exotropia is perceived more negatively.
Kunz, Andrea, Mojon, Daniel, Mojon-Azzi, Stefania   +2 more
core  

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, EarlyView.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

Impact of Cataract Surgery on Vision-related Quality of Life in Patients with Strabismus: A Quasi-experimental Study [PDF]

Journal of Clinical and Diagnostic Research
Introduction: Reduction in visual acuity and glare are common indications for cataract surgery in patients with strabismus. The amblyopic eye is particularly sensitive to blur, despite reduced visual acuity and contrast sensitivity.
AB Chirag, T Sangeetha, SM Darshan
doaj   +1 more source

Factors Predisposing to Amblyopia After Exotropia Surgery

Acta Medica Iranica, 2021
- Amblyopia (lazy eye) is one of the significant complications of strabismus surgery. It is the most important cause of unilateral visual impairment in both children and adults.
Qader Motarjemizadeh, Naser Samadi Aidenloo   +1 more
doaj   +1 more source

What do patients with strabismus expect post surgery? The development and validation a questionnaire [PDF]

, 2015
Aims: To develop and validate a short questionnaire to assess patients’ expectations about outcomes post strabismus surgery. Methods: Questionnaire items were extracted from previous literature and reviewed by a multidisciplinary team.
Adams, G. G. W., Ezra, D. G., Hancox, J., MacKenzie, K., McBain, H. B., Newman, S. P.   +5 more
core   +1 more source

Juvenile polyposis in a SMAD4‐mutated child: A call for early surveillance

JPGN Reports, EarlyView.
Abstract We report the case of a 10‐year‐old boy with hereditary hemorrhagic telangiectasia (HHT) and a family history of SMAD4‐related juvenile polyposis syndrome (JPS), presenting with hypoferritinaemia unresponsive to oral supplementation. Endoscopic evaluation revealed multiple gastrointestinal polyps, including duodenal, gastric, and colonic ...
Claudia Lorusso, Giuseppe Lassandro, Stefania Castellaneta, Valentina Palladino, Giovanni la Grasta, Vanessa Nadia Dargenio, Vittorio Labriola, Alberto Gaeta, Paola Giordano, Fernanda Cristofori, Ruggiero Francavilla   +10 more
wiley   +1 more source