Results 31 to 40 of about 1,143,678 (194)
Frontiers in Genetics, 2022 Tatton–Brown–Rahman syndrome (TBRS) and Say–Barber–Biesecker– Young–Simpson variant of Ohdo syndrome (SBBYSS) are extremely rare genetic disorders with less than 100 reported cases.
Sunha Park +3 more
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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
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
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
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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
, 2016 Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis-ptosis-epicanthus inversus syndrome, Dandy-Walker malformation, and the rare Wisconsin syndrome.
Ramineni, Anand, Coman, David
core +1 more source
Surgical strategy for congenital blepharophimosis syndrome
Chinese Medical Journal, 2007 So far, most of the surgical techniques for congenital blepharophimosis syndrome are two-stage procedures. In this study, we investigated a modified one-stage procedure to reduce the suffering of patients.From 2003 to 2005, we adopted an one-stage technique combining blepharoptosis correction with medial canthoplasty in 16 patients with congenital ...
Wei-qing, Huang +4 more
openaire +2 more sources
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
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American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
A Case with Microphthalmia and Multiple Congenital Anomalies
Türk Oftalmoloji Dergisi, 2013 We present a 7-month-old girl with bilateral microphthalmia, sclerocornea, iris and chorioretinal coloboma, blepharophimosis and dacryostenosis. Microphthalmia is one of the most common features in many syndromes as Micro syndrome, oculodentodigital ...
Ayça Sarı +2 more
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