نتایج جستجو برای: ehlers danlos syndrome

تعداد نتایج: 622312  

Alavi, Samin , Molaei Tavana, Parastou ,

This article has no abstract.

2015
ARUP BHAUMIK

Surgical management of ectopia lentis is one of the major challenges faced by cataract surgeons today. Ectopia lentis signifies a displacement or malposition of the crystalline lens, irrespective of cause. It may occur congenitally or as part of developmental anomalies, as found in Marfan syndrome, homocystinuria, Ehlers-Danlos syndrome, hyperlysinemia, sulfite oxidase deficiency, simple primar...

2016
Indrashis Podder Karan Sancheti Sudip Das Debabrata Bandyopadhyay

Sir, There are several hereditary connective tissue disorders (CTDs), which occur due to mutation of specific genes. Common CTDs, which may present to a dermatologist, include Marfan syndrome (MFS) and Ehlers–Danlos syndrome (EDS); hence, we need to become acquainted with the diagnostic clinical features of these conditions. However, on rare occasions, patients may present with overlapping feat...

Journal: :Polskie Archiwum Medycyny Wewnetrznej 1997
T Nowakowski B Dembińska D Ryś J Musiał

We described a 30-year old man with Ehlers-Danlos syndrome type VI, manifested by marked kyphoscoliosis and severe myopia, who was admitted to our department because of chest pain. Abnormalities of stature and joint system along with eye changes, occurred starting from the birth and they aggravated gradually. Signs of increased fragility of the skin blood vessels appeared during childhood. At t...

2013
Ozlem Marti Akgun Fidan Sabuncuoglu Ayberk Altug Ceyhan Altun

The presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehlers-Danlos syndrome, incontinentia pigmenti, and Tricho-rhino-phalangeal syndrome. ...

Journal: :American Journal of Occupational Therapy 2022

Abstract Date Presented 04/01/2022 An estimated 85% of patients with hypermobile Ehlers-Danlos syndrome (hEDS) experience shoulder pain and impaired function. Kinesiology taping (KT) may be used by OT practitioners as an intervention to decrease improve upper extremity function in individuals hEDS. The purpose this study was investigate the short-term effects (0–48 hr) KT on hEDS pain. Primary ...

Journal: :genetics in the 3rd millennium 0
آریانا کریمی نژاد ariana kariminejad kariminejad-najmabadi pathology & genetics center علیرضا خاتمی alireza khatami محمد حسن کریمی نژاد mohammad hassan kariminejad بیت استینمن beat steinmann

ehlers-danlos syndrome (eds vi)(omim 225400) is an autosomal recessive disease of the connective tissue. it is characterized by severe hypotonia at birth, progressive kyphoscoliosis, skin hyperelasticity, joint hypermobility, microcornea, rupture of arteries and eye globe, and osteopenia. collagen lysyl hydroxylase is deficient in these patients. deficiency of the activity of lysyl hydroxylase,...

Journal: :The Journal of clinical investigation 2001
J R Mao J Bristow

2011
Nimisha Kakadia Niranjan S Kanaki

Ehelr Danlos Syndrome is characterized in its most common form by hyperextensibility of the skin, hypermobility of joints often resulting in dislocations, and tissue fragility exemplified by easy bruising, atrophic scars following superficial injury, and premature rupture of membranes during pregnancy. Heterogeneity between the several clinical syndromes both complicates the diagnosis of EDS an...

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