Results 21 to 30 of about 1,007 (198)
The Turkish Journal of Pediatrics, 2002 We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome. They also had hypotonia, incomplete cleft palate, bifid uvula, depressed nasal bridge, epicanthal folds, hypoplastic labia major ...
Sevim Balci, Ozlem Tekşam, Sansal Gedik
doaj +1 more source
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project [PDF]
BMC GenomicsChildhood glaucoma (CG) encompasses a heterogeneous group of genetic eye disorders that is responsible for approximately 5% of childhood blindness worldwide. Understanding the molecular aetiology is key to improving diagnosis, prognosis and unlocking the
Omayma Al-Saei +9 more
doaj +2 more sources
, 2023 Megalocornea and anterior megalophthalmos (megalocornea spectrum) disorders are typically defined by corneal diameter > 12.5 mm in the absence of elevated intraocular pressure. Clinical features overlap with keratoglobus but are distinct from buphthalmos
Vincent, Andrea L +3 more
core +2 more sources
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features
American Journal of Medical Genetics Part A, Volume 191, Issue 6, Page 1639-1645, June 2023., 2023 Abstract The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. Ophthalmic abnormalities appear to be highly associated with the syndrome, although this relationship has not been well characterized to date.
Hong Le +5 more
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 189, Issue 7-8, Page 257-270, October-December 2022., 2022 Abstract Recent studies show an association of Parkin RBR E3 ubiquitin protein ligase (PARK2) copy number variations (CNVs) with attention deficit hyperactivity disorder (ADHD). The aim of our pilot study to investigate gene expression associated with PARK2 CNVs in human‐derived cellular models. We investigated gene expression in fibroblasts, hiPSC and
Franziska Radtke +15 more
wiley +1 more source
Disrupted myelination network in the cingulate cortex of Parkinson's disease
IET Systems Biology, Volume 16, Issue 3-4, Page 98-119, May-June 2022., 2022 Abstract The cingulate cortex is part of the conserved limbic system, which is considered as a hub of emotional and cognitive control. Accumulating evidence suggested that involvement of the cingulate cortex is significant for cognitive impairment of Parkinson's disease (PD).
Song Xie +11 more
wiley +1 more source
Sturge–Weber Syndrome with Bilateral Port‐Wine Stain
Case Reports in Pediatrics, Volume 2022, Issue 1, 2022., 2022 Sturge–Weber syndrome is a rare congenital neurocutaneous disorder characterized by dermatological, ophthalmological, and neurological manifestations. It occurs due to abnormal persistence of embryonic vascular plexus. Here, we describe a case of four years seven months female with seizures, developmental delay, intellectual disability, and bilateral ...
Bishnu Deep Pathak +6 more
wiley +1 more source
Arnold‐Chiari Malformation Type II and CYP1B1 Congenital Glaucoma: A Possible Association
Case Reports in Ophthalmological Medicine, Volume 2021, Issue 1, 2021., 2021 Background. We describe a case of an infant with Arnold‐Chiari Malformation Type II (ACM‐II) who was born with lumbosacral myelomeningocele, hydrocephalus, and primary congenital glaucoma (PCG) together with dysmorphic features (scaphocephaly, frontal bossing, hypotelorism, entropion, and flat nasal bridge), which according to our knowledge, is a ...
Shaikha Aldossari +3 more
wiley +1 more source
BioMed Research International, Volume 2021, Issue 1, 2021., 2021 Purpose. To present applications of anterior segment optical coherent tomography (AS OCT) for anomalies of the eye in a Polish paediatric cohort. Materials and Methods. Seventy‐four eyes of infants and older children were examined. The majority of them underwent general anaesthesia to allow OCT to be performed in the operating room, but a few were ...
Katarzyna Lepska +5 more
wiley +1 more source
Case Reports in Ophthalmological Medicine, Volume 2021, Issue 1, 2021., 2021 A XEN gel stent implant procedure was performed in a one‐year‐old child with severe unilateral congenital glaucoma. At the age of 6 weeks, an uncomplicated 360° trabeculotomy had been performed, which resulted in intraocular pressure (IOP) control for only 4 months. The gel stent implantation was performed ab interno without complications.
Hannah Schellhase +5 more
wiley +1 more source