Results 51 to 60 of about 18,875 (272)
American Journal of Medical Genetics Part A, EarlyView.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
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
Use of atropine to predict the accommodative component in esotropia with hypermetropia
Indian 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
Successful prism treatment for cyclic esotropia: A case report
American Journal of Ophthalmology Case ReportsPurpose: 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
Monocular surgery for large-angle esotropias: review and new paradigms [PDF]
, 2010 As primitivas cirurgias de estrabismo, as miotomias e as tenotomias, eram feitas, simplesmente, seccionando-se o músculo ou o seu tendão, sem nenhuma sutura.
BICAS, Harley Edson do Amaral +1 more
core +2 more sources
Recurrent Rare Copy Number Variants Increase Risk for Esotropia
Investigative Ophthalmology and Visual Science, 2020 Purpose To determine whether rare copy number variants (CNVs) increase risk for comitant esotropia. Methods CNVs were identified in 1614 Caucasian individuals with comitant esotropia and 3922 Caucasian controls from Illumina SNP genotyping using two ...
M. Whitman +20 more
semanticscholar +1 more source
The Tutopatch® assisted surgery for complex strabismus study: TASCS‐study
Acta Ophthalmologica, EarlyView.Abstract Purpose To investigate the efficacy of tendon elongation using bovine pericardium (Tutopatch®) in complex strabismus surgeries, with a specific focus on longer follow‐up of postoperative outcomes and patient satisfaction. Methods In this pre‐post cohort study, the records of all patients who underwent tendon elongation strabismus surgery with ...
Ires A. W. Verhees +5 more
wiley +1 more source
Binocular responses and vertical strabismus [PDF]
, 2007 Background/Aim. Elevation in adduction is the most common pattern of vertical strabismus, and it is mostly treated with surgery. The results of weaking of inferior oblique muscle are very changeable. The aim of this study was to evaluate binocular vision
Erić-Marinković Jelena +5 more
core +1 more source
Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
Acta 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