Results 81 to 90 of about 3,310 (251)
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
A rare complication of hemolacria after Le fort I osteotomy: a case presentation
Maxillofacial Plastic and Reconstructive Surgery, 2022 Background Nasolacrimal duct obstruction (NDO) is a common pathology preventing the proper drainage of the tears, and its main symptom is epiphora. Secondary acquired nasolacrimal duct obstruction (SANDO) can be due to a variety of causes including ...
May S. Helal +2 more
doaj +1 more source
OCULOPLASTIC TRAINING AND ITS ROLE IN EYE CARE SERVICES IN A NIGERIA TERTIARY HOSPITAL [PDF]
, 2018 Oculoplasty subspecialty in Ophthalmology was barely 7 years in Nigeria. National statistics show an increased number of cases that should have benefitted from this expertise that is rare.
Fasasi, Monsudi Kehinde +1 more
core +2 more sources
Congenital Nasolacrimal Duct Obstruction [PDF]
Archives of Ophthalmology, 2012 To characterize anatomical abnormalities of the distal nasolacrimal duct (NLD) in children with congenital obstruction using high-resolution computed tomographic imaging.The anatomy of the bone and soft tissue of the NLD and the postductal anatomy of the inferior meatus in 6 children with a wide spectrum of NLD obstructions were imaged by computed ...
Avery H, Weiss +2 more
openaire +2 more sources
Molecular Genetics &Genomic Medicine, Volume 12, Issue 9, September 2024.Whole exome sequencing revealed a pathogenic variant c.1143G>A (p.Trp381*) in the RAD21 gene. We reviewed 36 patients with CdLS related to RAD21 gene variants reported worldwide. Frameshift variants constituted the predominant variant type, representing 36% (13/36) of cases.
Xinyu Yue +8 more
wiley +1 more source
Diagnosis of dental problems in pet rabbits (Oryctolagus cuniculus) [PDF]
, 2008 Dental problems are very common in pet rabbits. To establish a correct diagnosis of rabbit dental pathology, a general knowledge of normal dental anatomy and physiology is necessary.
De Rycke, Lieve +5 more
core +1 more source
Endoscopic Dacryocystorhinostomy [PDF]
, 2018 Epiphora, or abnormal tearing, occurs because of the blockage in the lacrimal drainage system, which impairs normal tearing channeling into the nose.
Gendeh, Balwant Singh
core +2 more sources
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis
American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.Abstract CHARGE syndrome is a rare multi‐system condition associated with CHD7 variants. However, ocular manifestations and particularly ophthalmic genotype–phenotype associations, are not well‐studied. This study evaluated ocular manifestations and genotype–phenotype associations in pediatric patients with CHARGE syndrome. A retrospective chart review
Kunal Kanwar +11 more
wiley +1 more source
A comparative study on intraoperative mitomycin-c augmented external dacryocystorhinostomy with conventional dacryocystorhinostomy [PDF]
, 2016 Background: Dacryocystorhinostomy (DCR) is a commonly done surgery performed for management of epiphora due to nasolacrimal duct obstruction. Goal of the procedure is to bypass the obstructed nasolacrimal duct allowing tear drainage into the nasal cavity
H. N., Pramod Kumar +1 more
core +2 more sources
Prevalence of Congenital Nasolacrimal Duct Obstruction and its related risk factors among newborns [PDF]
, 2021 Ebrahim Shirzadeh +4 more
openalex +1 more source