Results 41 to 50 of about 2,641 (162)
, 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 +3 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 +3 more
doaj
Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer +5 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 +2 more
core
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. +2 more
core +1 more source
Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1
The FEBS Journal, Volume 293, Issue 12, Page 3502-3527, June 2026.PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio +12 more
wiley +1 more source
A rare case of adult-onset blepharophimosis, ptosis, and epicanthus inversus syndrome: Case report [PDF]
, 1970 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic condition caused by a mutation in the FOXL2 gene and it is inherited in an autosomal dominant pattern.
S, Mahesha +2 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype
, 2016 We present a 3-month-old girl who displayed typical clinical characteristics of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). She was referred to our clinic with an initial diagnosis of Down syndrome.
Dogan, Murat +6 more
core +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 +18 more
wiley +1 more source