Results 91 to 100 of about 1,143,678 (194)

Blepharophimosis-ptosis-epicanthus inversus syndrome (type 1)

TNOA Journal of Ophthalmic Science and Research, 2021
Manpreet Singh, Arshiya Saini, Manpreet Kaur, Bhavna Singla   +3 more
doaj   +1 more source

A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I

Cellular Physiology and Biochemistry, 2018
Background/Aims: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations, and it is clinically characterized by an eyelid malformation associated (type I) or not (type II) with ...
Fang Li, Peiwei Chai, Jiayan Fan, Xi Wang, Wenjuan Lu, Jin Li, Shengfang Ge, Renbing Jia, He Zhang, Xianqun Fan   +9 more
doaj   +1 more source

Familial blepharophimosis syndrome: study of two colombian families and two sporadic cases Síndrome de la blefarotimosis familiar: estudio de dos familias colombianas y dos casos esporádicos

Iatreia, 1989
<p class="MsoNormal"><span style="font-size: 9pt; font-family: Arial">The blepharophimosis syndrome includes several associated anomalies, namely: blepharophimosis, blepharoptosis, epicanthus inversus and telecanthus.
José Luis Ramírez Castro
doaj  

A Case of Freeman-Sheldon Syndrome

, 2007
Purpose: To report a patient with Freeman-Sheldon syndrome with blepharophimosis. Methods: A 4-year-old girl with congenital facial abnormalities consistent with Freeman-Sheldon syndrome presented with complaints of blepharophimosis.
박형규, 이상열, 윤진숙
core  

Marden-Walker syndrome in an adult

, 1995
We report on a 23-year-old male with growth retardation, blepharophimosis, congenital contractures, minor anomalies of the face, and severe mental retardation. This patient is the second adult reported with the Marden-Walker syndrome.
Schinzel, Albert, Kotzot, Dieter
core   +2 more sources

Blepharophimosis syndrome: An atypical case [PDF]

Eye, 1994
S Sandramouli, S M Betharia
openaire   +1 more source

Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome

, 2011
Purpose: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant complex eyelid malformation. The authors aim to offer an explanation for the lower eyelid malformation and propose a novel surgical approach to correct it ...
Ilse Claerhout, Elfride De Baere, De Baere, Elfride, Philippe Kesteleyn, Akash D. Shah, Shah, Akash D, DECOCK, CHRISTIAN, Kestelyn, Philippe, Bart P. Leroy, Leroy, Bart, Claerhout, Ilse, Christian E. Decock   +11 more
core   +1 more source

De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report

Journal of Medical Case Reports
Background Say–Barber–Biesecker–Young–Simpson (SBBYS) (OMIM #603736, Ohdo syndrome variant) is a rare type of severe blepharophimosis intellectual disability syndrome, which is generally characterized by a global developmental delay, distinctive facial ...
Behzad Davarnia, Mohammad Panahi, Bahareh Rahimi, Hassan Anari, Reza Farajollahi, Ehsan Abbaspour Rodbaneh, Farhad Jeddi   +6 more
doaj   +1 more source

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature

, 2008
Blepharophimosis is a rare congenital anomaly of the palpebral fissure which is often associated with mental retardation and additional malformations. We report on a boy with blepharophimosis, ptosis and severe mental retardation carrying an unbalanced 4;
Bartholdi, D, Toelle, S P, Steiner, B, Boltshauser, E, Riegel, M, Schinzel, A   +5 more
core   +1 more source

Ohdo Syndrome: Report On A Brazilian Girl With Additional Findings

, 2015
We describe a Brazilian girl presenting Ohdo syndrome with cleft palate and diverticula of the bladder. Gestational history revealed the occurrence of fever for 12 days in the second month of gestation.
Guion-Almeida M.L., Da Silva Lopes V.L.G.   +1 more
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