Results 31 to 40 of about 3,111 (197)
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]
, 2010 Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F +23 more
core +2 more sources
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 +6 more
doaj +1 more source
Anesthesia of a patient with Dubowitz syndrome -A case report- [PDF]
Korean Journal of Anesthesiology, 2010 Dubowitz syndrome is a rare autosomal recessive disorder that leads to growth retardation (intrauterine, postnatal), mental retardation, a peculiar face, microcephaly, behavioral problems and eczema.
Min Kee Lee, Yong Seock Lee
doaj +1 more source
Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome [PDF]
International Journal of Ophthalmology, 2021 AIM: To characterize the genetic causes and clinical features in a four-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Wei-Ning Rong +4 more
doaj +1 more source
Genetics and Molecular Biology, 1998 We have evaluated a girl and a boy with the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). The girl presented cleft palate and the boy showed cleft lip and palate as additional clinical signs.
N.M. Kokitsu-Nakata, A. Richieri-Costa
doaj +1 more source
Prevalence of amblyopia in congenital blepharoptosis: a systematic review and Meta-analysis [PDF]
International Journal of Ophthalmology, 2019 AIM: To conduct a systematic review and Meta-analysis of the published literature to evaluate the pooled prevalence rate of amblyopia in patients with congenital ptosis.
Jia-Ying Zhang +4 more
doaj +1 more source
TNOA Journal of Ophthalmic Science and Research, 2021 Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is autosomal dominant disorder affecting 200 families worldwide. It is marked by bilateral ptosis with poor levator function, shortened horizontal palpebral fissures, and epicanthus inversus. We
Reshma Ramakrishnan +2 more
doaj +1 more source
Frydman-Cohen-Karmon syndrome: a rare syndromic association of blepharophimosis [PDF]
BMJ Case Reports, 2020 Blepharophimosis refers to the reduced horizontal length of the palpebral aperture. It is found to be associated with multiple syndromes.[1][1] Frydman-Cohen-Karmon syndrome (FCKS) is an autosomal recessively inherited syndrome characterised by the presence of features, including blepharophimosis,
Rachna Meel +3 more
openaire +2 more sources
Glomerulopathy in patients with distal duplication of chromosome 6p [PDF]
, 2016 Background: Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a ...
Bernaciak, Joanna +5 more
core +1 more source
OftalʹmologiâBlepharophimosis 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 +2 more
doaj +1 more source