Results 41 to 50 of about 5,272 (228)
Офтальмохирургия, 2021 Purpose. Comparative evaluation of patients’ rehabilitation using less traumatic STRABO care technique and traditional methods of strabismus surgery. Material and methods. Sixty-two patients with esotropia were included in the study.
I. E. Aznauryan +4 more
doaj +1 more source
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source
BMC Ophthalmology, 2022 Objective To evaluate the safety, function, and cosmetic outcome of eyelid reconstruction using a xenogeneic acellular dermal matrix as a tarsal plate replacement in the repair of 50 to 100% eyelid defects following excision of large malignant tumours ...
Qin Huang +3 more
doaj +1 more source
The Effect of Horizontal Strabismus Muscle Surgery on the Vertical Palpebral Fissure Height [PDF]
, 2023 Amany Ragab +22 more
openalex +1 more source
The role of Rho GTPases in facial morphogenesis
Developmental Dynamics, EarlyView.The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley +1 more source
Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care
Acta Ophthalmologica, EarlyView.Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano +26 more
wiley +1 more source
Clinical Genetics, EarlyView.Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart +17 more
wiley +1 more source
Goldenhar syndrome with blepharophimosis and limb deformities: a case report
BMC Ophthalmology, 2018 Background Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been
Xia Ding +6 more
doaj +1 more source
Cosmetic Lateral Canthal Lengthening with 2 Tarsal Bites Made in the Periosteum [PDF]
Archives of Aesthetic Plastic Surgery, 2017 Asian eyes may have a narrow palpebral fissure and an upward Mongolian slant that is sometimes perceived as an angry or unfavorable expression. Among the various methods of oculoplastic surgery, lateral canthoplasty can alter the structure of the eyes ...
Jin Bin Kim +5 more
doaj +1 more source
Clinical Genetics, EarlyView.Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti +16 more
wiley +1 more source