Results 41 to 50 of about 2,495 (204)

Pathogenic Mechanisms of Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Chinese Family with a Novel Missense FOXL2 Mutation

, 2023
Background: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease, and the only known cause is the haploinsufficiency of the forkhead box L2 (FOXL2). The purpose of this study was to study the functional changes
Zhou, Lu, Fan, Jincai, Yan, Yucheng, Song, Peng   +3 more
core   +1 more source

A New Method for Reconstruction the Medial Angle of the Eye Among Patients with Blepharophimosis Syndrome (Clinical Cases)

Oftalʹmologiâ
Blepharophimosis syndrome (palpebral syndrome) is a sporadic or hereditary genetic disease, manifested mainly by changes in the eyelids in the form of blepharophimosis, ptosis of the upper eyelid and reverse epicanthus.
M. G. Kataev, I. Yu. Trofimova, M. A. Zakharova   +2 more
doaj   +1 more source

Goldenhar syndrome with blepharophimosis and limb deformities: a case report

BMC Ophthalmology, 2018
Background Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been
Xia Ding, Xi Wang, Yuan Cao, Jiaying Zhang, Ming Lin, Xianqun Fan, Jin Li   +6 more
doaj   +1 more source

Clinical Features and Prognosis of SEPTIN9‐Related Hereditary Neuralgic Amyotrophy

European Journal of Neurology, Volume 33, Issue 4, April 2026.
Neuralgic amyotrophy (NA) may be either idiopathic (INA) or hereditary (HNA). In this multicenter retrospective study, SEPTIN9‐related HNA was associated with a younger age at onset, more frequent recurrences, sensory symptoms, distal upper‐limb nerve involvement, as well as the presence of a family history of NA and dysmorphic features, compared with ...
Julian Theuriet, Isabelle Quadrio, Frédéric Fer, Pauline Monin, Adrien Bohic, Alice Gravier‐Dumonceau, Vianney Poinsignon, Emilien Delmont, Emmanuelle Salort‐Campana, Shahram Attarian, Sylvain Nollet, Philippe Petiot, Solène Ronsin, Stéphane Peysson, Pierre Lozeron, Françoise Bouhour, Philippe Corcia, Antoine Pegat, Tanya Stojkovic   +18 more
wiley   +1 more source

Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging

, 2011
We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal ...
Bessenyei, Beáta, Balogh, Erzsébet, Szilvássy, Judit, Oláh, Eva, Berényi, Ervin, Knegt, Alida C., Jakab, András, Köbling, Tamás, Szakszon, Katalin   +8 more
core   +1 more source

Whistling face (Freeman-Sheldon) syndrome in two siblings

The Turkish Journal of Pediatrics, 1994
Two siblings with typical manifestations of whistling face (Freeman-Sheldon) syndrome (WFS) born to unaffected parents are presented. In Case 1, deep-set eyes, epicanthus, blepharophimosis, right lid ptosis, strabismus, anti mongoloid slant, small
N Bekir, Z Bayraktaroğlu, Y Coşkun, C Karaaslan   +3 more
doaj  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Microcephaly and Blepharophimosis in a girl with 46,XX,ins(6;3)(q23;q27q21)

, 2021
This clinical report describes a one year old girl with severe microcephaly,moderate developmental delay and blepharoimosis. She had no internalorgan malformations and structural brain abnormalities. Frequent upperrespiratory infections were noted.
Toksoy, Güven, Sayar, Ceyhan, Yeşil Sayın, Gözde   +2 more
core  

Ontogeny of RSPO1, FOXL2, and RUNX1 during ovarian differentiation in the marsupial tammar wallaby

Developmental Dynamics, Volume 255, Issue 3, Page 340-361, March 2026.
Abstract Background RSPO1 and FOXL2 are female sex‐determining genes involved in the differentiation and organization of the ovary in some eutherian mammals. Mutations or loss of function of these genes are associated with partial to full sex reversal in mice, humans, and goats.
Monika R. Paranjpe, Yu Chen, Geoff Shaw, Marilyn B. Renfree   +3 more
wiley   +1 more source

The Ohdo blepharophimosis syndrome in a Mexican boy

, 1992
The clinical picture of a 16-month-old Mexican boy (hypotonia, psychomotor retardation, blepharophimosis, small and widely spaced teeth, hypoplastic scrotum) was compatible with the diagnosis of Ohdo blepharophimosis syndrome (OBS).
Ramirez-Duenas, M.L., Rivera, H., Figuera, L.E.   +2 more
core   +1 more source