Results 71 to 80 of about 1,143,678 (194)
Oculomotor Problems Associated with the Blepharophimosis Syndrome [PDF]
, 1990 The Blepharophimosis syndrome consists of blepharophimosis or a narrowed palpebral aperture, ptosis, telecanthus and epicanthus inversus. It is inherited as autosomal dominant, but half of our cases occurred as fresh mutations. We have studied nearly 100 patients with this syndrome to assess the incidence of squint and amblyopia.
J. W. Walker, R. Collins
openaire +1 more source
Human Mutation, Volume 2026, Issue 1, 2026.KAT6B‐related disorders (KRDs) comprise a spectrum of developmental disorders ranging from Genitopatellar syndrome (GPS) to Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS), with increasing recognition of intermediate phenotypes. Although genotype–phenotype correlations have progressively emerged, the molecular basis of phenotypic variability ...
Vito Luigi Colona +16 more
wiley +1 more source
Foxl2 Mutations in Taiwanese Patients with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
, 2011 Background: Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominant developmental disorder that includes an eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). Mutations in the
LIN, WEI-DE;CHOU, I.-CHING;LEE, NI-CHUNG;WANG, CHUNG-HSING;HWU, WUH-LIANG;LIN, SHUAN-PEI;CHAO, MEI-CHYN;TSAI, YUHSIN;TSAI, FUU-JEN +1 more
core
BMC Medical Genetics, 2018 Background Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature.
Mohammad M. Al-Qattan +4 more
doaj +1 more source
The Ohdo blepharophimosis syndrome: a third case. [PDF]
Journal of Medical Genetics, 1991 A patient with a syndrome consisting of blepharophimosis, simple ears, hypoplastic teeth, developmental delay, and hypotonia is described. Previous case reports are reviewed and a differential diagnosis is described. Many of the features in the subject are similar to those described in two previous reports and they constitute a distinct syndrome.
openaire +2 more sources
Endometrial cancer diagnosed in a patient with Myhre syndrome: a case report [PDF]
Kosin Medical JournalWe report an extremely rare case of endometrial cancer diagnosed in a patient with Myhre syndrome. Myhre syndrome is a rare autosomal-dominant disorder caused by one of two heterozygous gain-of-function pathogenic variants in the SMAD4 gene.
Hye Jin Kim +12 more
doaj +1 more source
Minimizing Postoperative Scars in Epicanthoplasty: A Concise Review
Journal of Cosmetic Dermatology, Volume 24, Issue 12, December 2025.ABSTRACT Background The epicanthal fold is a fibromuscular skin fold covering the medial aspect of the eye. Upper double eyelid blepharoplasty and epicanthoplasty have become the most frequently performed cosmetic surgeries in Asia. However, many surgeons have expressed concern for hypertrophic scarring following epicanthoplasty.
Fredrik A. Fineide +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo +4 more
wiley +1 more source
, 1998 We report on 2 unrelated Indian girls with blepharophimosis; arachnodactyly; digital contractures which improved spontaneously; elbow deformity; beaked nose; everted lips; large ears; findings similar to those in 2 cases reported previously by Van Den ...
Phadke, Shubha R. +2 more
core +1 more source
The oral mucosal and salivary microbial community of Behçet's syndrome and recurrent aphthous stomatitis. [PDF]
, 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License, permitting all non-commercial use, distribution, and reproduction in any medium, provided the original work is ...
Bergmeier, LA +9 more
core +1 more source