Results 181 to 190 of about 3,111 (197)

A dominantly inherited congenital anomaly syndrome with blepharophimosis

The Journal of Pediatrics, 1979
biopsy results from one patient showed no accumulation of zinc in the mucosa?' suggesting that cellular egress is normal. The zinc deficiency state is readily corrected by oral administrat ion of zinc salts or by feeding human milk. The therapeutic effect of the latter is thought to be due to the presence o f a ZBL which enhances cellular uptake.
S M, Pueschel, G, Barsel-Bowers
openaire   +2 more sources

FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES)

Translational Research, 2011
Blepharophimosis syndrome (BPES) is a rare, autosomal dominant disease. Two clinical types of BPES have been distinguished. In BPES type I, an eyelid malformation is associated with infertility in affected females as a result of premature ovarian failure. In BPES type II, eyelid anomalies alone are observed. Mutations of FOXL2, which is a gene encoding
Jia-Yan, Fan, Ye-Fei, Wang, Bing, Han, Yong-Rong, Ji, Huai-Dong, Song, Xian-Qun, Fan   +5 more
openaire   +2 more sources

[Blepharophimosis-ptosis-epicanthus inversus syndrome].

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti, 2017
To report the ocular phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).Ophthalmological examination of a 36 year-old proband and detailed family history evaluation, including assessment of available facial photographs of affected relatives, was performed.There were four affected males and one female in three generations.
P, Lišková, Ľ, Ďuďáková, P, Diblík   +2 more
openaire   +1 more source

Atypical Blepharophimosis Syndrome

Ophthalmology, 2007
Thabit, Mustafa, Kimia, Ziahosseini
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Blepharophimosis‐ptosis‐epicanthus inversus syndrome

Pediatrics International, 2011
Carla, Graziadio, Felipe Nora, de Moraes, Rafael Fabiano Machado, Rosa, Paulo Ricardo Gazzola, Zen, Giovanni Marcos, Travi, Carolina, Waldman, Cristina Touguinha Neves, Medina, Elfride, De Baere, Giorgio Adriano, Paskulin   +8 more
openaire   +2 more sources

[Blepharophimosis syndrome. Clinical aspects and therapy].

Klinische Monatsblatter fur Augenheilkunde, 1995
Symptoms, genetics and differential diagnosis of this rare, congenital deformity of the lids are described. Strategies for the conservative and surgical therapy on the basis of own experiences and an extensive review of the literature are presented.
C R, Hintschich, M, Zürcher
openaire   +1 more source

[Blepharophimosis ptosis epicanthus inversus syndrome (BPES) (corrected)].

Klinische Monatsblatter fur Augenheilkunde, 2012
The blepharophimosis ptosis epicanthus inversus syndrome (BPES, also known as Waardenburg syndrome) was probably first reported by Ammon in 1841 and discribed more fully by Vignes in 1889. Its primary effects on the soft tissue of the midface are blepharophimosis, ptosis, epicanthus inversus and telecanthus. It starts with the epicanthic folds at about
A, Tyers, H-W, Meyer-Rüsenberg
openaire   +1 more source

Kohn-Romano Syndrome (Blepharophimosis Syndrome)

2015
John Pemberton, Eddie Mengarelli
openaire   +1 more source

Y-V-plasty for Blepharophimosis Syndrome

2014
Ronald Mancini, Nicole Khadavi Kohan
openaire   +1 more source

Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)

International Ophthalmology Clinics, 2008
Calliope E, Allen, Peter A D, Rubin
openaire   +2 more sources