Results 61 to 70 of about 10,309 (220)
Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.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
Accommodative esotropia: Efficacy of treatment [PDF]
, 1990 Accommodative esotropia: Efficacy of ...
Feil, Fred M
core
British and Irish Orthoptic Journal, 2011 Aim: Convergence excess accommodative esotropia describes an esotropia on accommodation at near fixation that is controlled to an esophoria/orthophoria at distance fixation with binocular single vision.
Tess Garretty
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.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
Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer +5 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 6, June 2026.ABSTRACT Pathogenic variants in GNB2 have been associated with a neurodevelopmental disorder that includes global developmental delays and intellectual disability, hypotonia, increased risk for seizures, heart and renal anomalies, and characteristic facial features.
Megan Glassford +2 more
wiley +1 more source
Infantile esotropia: risk factors associated with reoperation
, 2016 Adriano Magli,1 Luca Rombetto,2 Francesco Matarazzo,2 Roberta Carelli1 1Department of Ophthalmology, Orthoptics and Pediatric Ophthalmology, University of Salerno, Salerno, 2Department of Ophthalmology, Federico II University, Naples, Italy Abstract ...
Magli A +3 more
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Resolution of adult-onset cyclic esotropia
Journal of Clinical Ophthalmology and ResearchCyclic esotropia is a rare type of strabismus that has alternating periods of esotropia and orthotropia. We present the case of a 60-year-old male who complained of inward deviation of the right eye for 8–9 years with alternating periods of 12-h ...
Chasin Riamuk Roomching +1 more
doaj +1 more source
New considerations about Duane's syndrome Novas considerações sobre a síndrome de Duane
Revista Brasileira de Oftalmologia, 2009 The author presents his arguments to state that the Duane's syndrome type III of the Huber's classification does not exist. He takes the chance of those arguments to show why the medial rectus muscle recession in Duane's syndrome with esotropia cripples ...
Carlos Ramos de Souza-Dias
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca +7 more
wiley +1 more source