Results 101 to 110 of about 1,143,678 (194)

Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A

open access: yesDermatology and Therapy
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by typical facial dysmorphism, generalized muscle stiffness, joint contracture, and skeletal abnormalities.
Panittra Suphatsathienkul   +5 more
doaj   +1 more source

BLEPHAROPHIMOSIS – PTOSIS EPICANTHUS INVERSUS SYNDROME (BPES)

open access: yesDelhi Journal of Ophthalmology, 2010
Saurabh Kamal   +4 more
doaj   +1 more source

Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family

open access: yesJournal of the ASEAN Federation of Endocrine Societies, 2017
Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF).
Abhinav Kumar Gupta   +3 more
doaj  

Schwartz-Jampel syndrome: An atypical form?

open access: yes, 1993
The Schwartz-Jampel syndrome (SJS) is an autosomal recessive disorder of myotonia, short stature, 'mask-like' face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum.
Jimenez-Gil, F.J.   +3 more
core   +1 more source

Bilateral Fist Lid-Lift: A Novel Compensatory Behavior in an Infant with Blepharophimosis Syndrome. [PDF]

open access: yesChildren (Basel)
Elabjer BK   +5 more
europepmc   +1 more source

Blepharophimosis syndrome

open access: yesIstanbul Bilim University Florence Nightingale Journal of Medicine, 2019
openaire   +2 more sources

A multi-category eye image dataset for AI-based segmentation and analysis of eyelid disorders. [PDF]

open access: yesSci Data
Shao J   +9 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy