Results 71 to 80 of about 2,495 (204)

Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family

Journal of the ASEAN Federation of Endocrine Societies, 2017
Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF).
Abhinav Kumar Gupta, Deepak Chand Gupta, Saqib Ahmad Khan, Syed Mohd Razi   +3 more
doaj  

Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

Case Reports in Genetics, 2011
We report a 4-year-old girl of Mexican origins with a clinical diagnosis of Dubowitz syndrome who carries a de novo terminal deletion at the 14q32.33 locus identified by array comparative genomic hybridization (aCGH).
Diana C. Darcy, Scott Rosenthal, Robert J. Wallerstein   +2 more
doaj   +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, Erdem Dinç, Olgu Hallıoğlu Kılınç   +2 more
doaj   +1 more source

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1

, 2015
Blepharophimosis syndrome (BPES) is an autosomal dominant genetic condition resulting from heterozygous mutations in the FOXL2 gene and clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure.
Petruzzi, D, Novelli, G, Piemontese, M. R, Meldolesi, I, Fabbri, A, Sangiuolo, F, Zelante, L, Passeri, M, BRANCATI, Francesco, Calanchini, M, Nuovo, S, Di Benedetto, E, Di Giacomo, M. C   +12 more
core   +2 more sources

Blepharophimosis-ptosis-epicanthus inversus syndrome in a Pakistani pedigree

, 2010
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare developmental ocular disorder. We report this condition affecting 4 members of a Pakistani family across three generations.
Saleem, Taimur, Khalid, Mirza Umair, Chaudhry, Tanveer Anjum, Ahmad, Khabir   +3 more
core  

Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis, contractural arachnodactyly, and characteristic face

, 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., Agarwal, S. S., Gulati, Reena   +2 more
core   +1 more source

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

, 2001
In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23.
Deiana M, Porcu S, Marzella R, Gasparini P, Cao A, CRISPONI, LAURA, Nicolino M, Bisceglia L, Schlessinger D, Bonneau D, Zelante L, Uda M, Verloes A, Loi A, ROCCHI, Mariano, Rocchi M, Nagaraja R, Nivelon A, Crisponi L, Pilia G., Chiappe F, Amati P, Lienhardt Roussie A, Serafina Ristaldi M, Ristaldi MS   +24 more
core   +1 more source

Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome?

, 1993
A father and two sons with blepharophimosis, ptosis, polythelia and brachydactyly are presented, apparently without other abnormalities. The features do not fit into any previously described syndrome.
Wittebol-Post, D., Hennekam, R. C.
core  

A rare case of adult-onset blepharophimosis, ptosis, and epicanthus inversus syndrome: Case report

, 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, Bhat, Manoj Y, Bhimalli, Shruthi   +2 more
core   +1 more source

Management of congenital blepharoptosis in pediatric patients

Journal of Pediatric Surgery Open
Introduction: Palpebral ptosis corresponds to the lowered positioning of the upper eyelid margin (MRD1) in primary gaze. The objective of this work is to present the response to surgical treatment of palpebral ptosis operated in the last 3 years. Methods:
Angélica Paulos, Carolina Lagos, Valentina Broussain, Katherine Ellsworth, María José Hurtado, Andrea Hasbún   +5 more
doaj   +1 more source