Clinical Case Reports, Volume 13, Issue 8, August 2025.ABSTRACT Pathogenic mutations in the ZNF292 gene are a significant genetic cause of Intellectual Developmental Disorder (IDD) in individuals, manifesting with a spectrum of clinical features including mild to severe intellectual impairment, speech delay, and co‐occurring autism spectrum disorder (ASD).
Li Dongxue +8 more
wiley +1 more source
Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab
Pediatric Dermatology, Volume 42, Issue 4, Page 844-848, July/August 2025.ABSTRACT We report a patient with neuroichthyosis with an ELOVL1 variant associated with severe pruritus who responded well to dupilumab therapy. Our case is the third known patient reported with this de novo heterozygous dominant variant. The feature of severe progressive pruritus greatly impairing quality of life is unique among these reports.
Danielle Marcoux +4 more
wiley +1 more source
Wernicke Encephalopathy in a Child With Acute Lymphoblastic Leukemia: A Case Report
Cancer Reports, Volume 8, Issue 6, June 2025.ABSTRACT Background Wernicke encephalopathy (WE) is a life‐threatening neurological disorder caused by thiamine deficiency, commonly associated with alcoholism but also observed in malnourished pediatric cancer patients undergoing intensive chemotherapy. WE remains underdiagnosed in children, with many cases only confirmed postmortem.
Ghazaleh Shakibamaram +5 more
wiley +1 more source
Natural history of cerebral visual impairment in children with cerebral palsy
Developmental Medicine &Child Neurology, Volume 67, Issue 4, Page 486-495, April 2025.This original article is commented by Williams on pages 424–425 of this issue. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16143 Abstract Aim To longitudinally evaluate the natural history of cerebral visual impairment (CVI) in children with cerebral palsy (CP) and identify which early visual signs or symptoms are ...
Jessica Galli +9 more
wiley +1 more source
Simultaneous three or four horizontal rectus muscle surgery versus two-staged surgery for large angle congenital esotropia in children : a randomized controlled trial. [PDF]
, 2017 Large angle congenital esotropia is commonly seen in South Africa. The optimal surgical approach for angles larger than 50 prism dioptres (PD) esotropia is controversial.
Du Bruyn, Magritha.
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American Journal of Medical Genetics Part A, Volume 194, Issue 10, October 2024.Abstract Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016–2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and
Angela E. Lin +94 more
wiley +1 more source
Botulinum Injection in the Tensor Fasciae Latae as an Adjunct Treatment for Iliotibial Band Syndrome [PDF]
, 2020 Iliotibial band syndrome is a highly prevalent and painful condition characterized by anterolateral knee pain from an inflamed iliotibial band, with the current standard of care being physical therapy.
Jones, J. Morgan
core +1 more source
Cyclic Esotropia Managed With Botulinum A Toxin Injections: A Report of Four Cases and Literature Review. [PDF]
Cureus, 2023 Abdelaal AM +3 more
europepmc +1 more source
Computer assisted strabismus/amblyopia diagnosis [PDF]
Computer assisted strabismus/amblyopia ...
Paris, George, Reidy, John
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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy [PDF]
, 2020 Glycosylphosphatidylinositol (GPI)-anchored proteins are critical for embryogenesis, neurogenesis, and cell signaling. Variants in several genes participating in GPI biosynthesis and processing lead to decreased cell surface presence of GPI-anchored ...
Anselm, I +37 more
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