Results 21 to 30 of about 3,111 (197)

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome

Indian Journal of Ophthalmology, 2014
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus.
Bhavin M Shah, Tanuj Dada, Anita Panda, Mukesh Tanwar, Shibal Bhartiya, Rima Dada   +5 more
doaj   +1 more source

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome [PDF]

, 2016
PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study.
A v Cruz, A, Akaishi, P, Araujo Silva, W, Chodraui-Filho, S, Cintra, M, Duarte, AF, Molfetta, G, Toscano, A   +7 more
core   +1 more source

Visuo-motor performance in children visually impaired due to fetal alcohol syndrome (FAS) [PDF]

, 2013
Purpose: To investigate the ophthalmological characteristics and to evaluate the magnocellular function in Russian orphanage children with fetal alcohol syndrome (FAS).
Gummel, Kristina
core   +1 more source

Haploinsufficiency of DNA damage response genes and their potential influence in human genomic disorders [PDF]

, 2008
Genomic disorders are a clinically diverse group of conditions caused by gain, loss or re-orientation of a genomic region containing dosage-sensitive genes.
O'Driscoll, Mark
core   +4 more sources

Suspensory materials for surgery of blepharoptosis: a systematic review of observational studies [PDF]

, 2016
Background Frontalis suspension surgery is considered the procedure of choice in cases of blepharoptosis. Among all the materials used in this type of surgery, ophthalmic and plastic surgeons prefer to use autologous Fascia Lata.
Amorelli, Giulia Maria, BOTTONE, Andrea, LA TORRE, Giuseppe, MIPATRINI, DANIELE, PACELLA, Elena, PACELLA, FERNANDA, SMALDONE, GIANPAOLO, TURCHETTI, PAOLO   +7 more
core   +6 more sources

A γA-Crystallin Mouse Mutant Secc with Small Eye, Cataract and Closed Eyelid [PDF]

, 2016
published_or_final_versio
Cheng, MH, Choy, KW, Pang, CP, Sham, MH, Song, Y, Tam, CN, Tsang, SL, Tsang, WH   +7 more
core   +1 more source

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review. [PDF]

Clin Genet
This study analyses 29 new Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) patients with BRPF1 variants and reveals a broad phenotypic spectrum, including novel features such as palpebral oedema. It highlights the variability in clinical expression, underlines the importance of ophthalmological assessment and detailed ...
Colson C, Tessarech M, Boucher-Brischoux E, Boute-Benejean O, Vincent-Delorme C, Vanlerberghe C, Boussion S, Cunff JL, Duban-Bedu B, Faivre L, Thauvin C, Philippe C, Bruel AL, Tran Mau-Them F, Houdayer C, Lesca G, Putoux A, Lévy J, Patat O, Rio M, Ghoumid J, Smol T.   +21 more
europepmc   +2 more sources

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) [PDF]

Journal of Medical Genetics, 1988
Un cas chez une fille est presentee. Zlotogora et coll. ont individualise 2 types. De nombreux enfants necessitent une intervention chirurgicale precoce en raison des difficultes visuelles associees au ptosis et au ...
C, Oley, M, Baraitser
openaire   +2 more sources

Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber –Biesecker–Young–Simpson variant of ohdo syndrome

Frontiers in Genetics, 2022
Tatton–Brown–Rahman syndrome (TBRS) and Say–Barber–Biesecker– Young–Simpson variant of Ohdo syndrome (SBBYSS) are extremely rare genetic disorders with less than 100 reported cases.
Sunha Park, Jaewon Kim, Tae-Young Song, Dae-Hyun Jang   +3 more
doaj   +1 more source

De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss-of-Function Variant Resolved by RNA Analysis. [PDF]

Mol Genet Genomic Med
This study describes a girl with DEE, in whom WGS identified candidate variants in HNRNPU, NIPBL, and KANSL1, with only the de novo HNRNPU variant being causative, while the inherited KANSL1 variant, located in a non‐functional duplicated locus, did not contribute to the phenotype.
Akimova D, Guseva D, Nefedova M, Skoblov M.   +3 more
europepmc   +2 more sources