Results 21 to 30 of about 88,628 (297)

Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report

open access: yesBMC Ophthalmology, 2022
Background CHARGE syndrome is a relatively common cause of deafness and blindness resulting from failure to form the primordia of specific organs due to deficient contribution of neural crest cell derivatives.
Patrick L. Donabedian   +2 more
doaj   +1 more source

Unusual presentation of CREST retinal vasculitis

open access: yesAmerican Journal of Ophthalmology Case Reports, 2021
Purpose: To report a case of CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasias) syndrome-induced retinal vasculitis in the setting of ocular inflammation soon after recent micropulse cyclophotocoagulation ...
Effie Z. Rahman   +3 more
doaj   +1 more source

About a subcutaneous calcification

open access: yesThe Pan African Medical Journal, 2018
We report a case of 62-year-old Tunisian woman with a 10-year history of a CREST syndrome (systemic sclerosis meeting the criteria of the CREST syndrome of the 1980 American College of Rheumatology classification for raynaud phenomenon, esophageal ...
Dhia Kaffel, Hela Kchir
doaj   +1 more source

Severe osteoarticular involvement in isotretinoin-triggered acne fulminans: two cases successfully treated with anakinra. [PDF]

open access: yes, 2017
Acne fulminans (AF) is a severe form of inflammatory and ulcerated acne associated with fever, malaise, joint swellings and polyarthralgia.1 Osteoarticular lesions are often described and can be radiologically indistinguishable from those observed in
Barbareschi   +9 more
core   +1 more source

A rare case of hidebound disease with dental implications

open access: yesDental Research Journal, 2013
Systemic sclerosis (also called as Scleroderma or hidebound disease) is a chronic sclerotic disease of unknown etiology which causes diffuse, increased deposition of extra cellular matrix in connective tissue with vascular abnormalities, resulting in ...
Vikram Bali   +3 more
doaj   +1 more source

Management of functional neurological disorder. [PDF]

open access: yes, 2020
Functional neurological disorder (FND) is a common cause of persistent and disabling neurological symptoms. These symptoms are varied and include abnormal control of movement, episodes of altered awareness resembling epileptic seizures and abnormal ...
Coebergh, JA   +7 more
core   +1 more source

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development [PDF]

open access: yes, 2017
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects.
A Javed   +97 more
core   +3 more sources

The sonoanatomy of lumbar erector spinae and its iliac attachment – the potential substrate of the iliac crest pain syndrome, an ultrasound study in healthy subjects

open access: yesJournal of Ultrasonography, 2018
Background: Iliac crest pain syndrome is a regional pain syndrome that has been identified in many patients with low back pain. Based on anatomical studies, it was suggested that the potential substrate of this syndrome might be the enthesis of the ...
Plamen Todorov   +2 more
doaj   +1 more source

Genetics Underlying the Interactions between Neural Crest Cells and Eye Development

open access: yesJournal of Developmental Biology, 2020
The neural crest is a unique, transient stem cell population that is critical for craniofacial and ocular development. Understanding the genetics underlying the steps of neural crest development is essential for gaining insight into the pathogenesis of ...
Jochen Weigele, Brenda L. Bohnsack
doaj   +1 more source

Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. [PDF]

open access: yes, 2013
The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a ...
Davies, EG
core   +2 more sources

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