Results 71 to 80 of about 2,641 (162)

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. [PDF]

, 2008
Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus.
Hendriks, Yvonne, Van Regemorter, Nicole, De Baere, Elfride, Wieczorek, Dagmar, Wilson, Louise C., Beysens, D., De Paepe, Anne, Kimonis, Virginia, Barel, Dalit, Clayton-Smith, Jill, Leroy, Bart P., Van Regenmorter, Nicole, Christin-Maitre, Sophie, de Ravel, Thomy, Gillessen-Kaesbach, G., Gillessen-Kaesbach, Gabriele, Christin‐Maitre, Sophie, Plomp, Astrid, Neumann, Luitgard, Hennekam, Raoul, Plompen, Arjan, Grix, Arthur W, de Ravel, Thomas, Meire, Françoise, Miller, David T, Wilson, Louise C, Hendrikx, Yvonne, Amor, David, Mowat, David, Grix, Arthur W., Laissue, Paul, Bouchard, Ph., Delbeke, Patricia, Touraine, Philippe, Leroy, Bart P, Fellous, Marc, Laframboise, Rachel, Gillessen‐Kaesbach, Gabriele, BEYSEN, DIANE, De Jaegere, Sarah, Ebinger, Friedrich, Decock, Christian, Hennekam, R C, Miller, David T., Veitia, Reiner A., Leppig, Kathleen, Bouchard, Philippe, Ensenauer, Regina, Oyen, Nina, Veitia, Reiner A, Clayton‐Smith, Jill, Leroy, Bart   +51 more
core   +1 more source

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

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations

, 2020
International audienceBackground: FOXL2 is the gene involved in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There have been few single case reports of growth hormone deficiency (GHD) with this syndrome, and Foxl2 is known to be ...
Roucher-Boulez, Florence, Chabre, Olivier, Saveanu, Alexandru, Morel, Yves, Amati-Bonneau, Patrizia, Bonneau, Dominique, Nicolino, Marc, Brue, Thierry, Girardin, Celine, Villanueva, Carine, Reynaud, Rachel, Castets, Sarah, Mallet, Delphine   +12 more
core   +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, 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  

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

Ectrodactyly with absent meibomian glands and blepharophimosis – A unique presentation

Indian Journal of Ophthalmology. Case Reports, 2021
Bipasha Mukherjee, Soham S Pal
doaj   +1 more source

De Novo Interstitial Deletion of 3q22.3-q25.2 Encompassing FOXL2, ATR, ZIC1, and ZIC4 in a Patient With Blepharophimosis/Ptosis/Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Global Developmental Delay

, 2011
We report a case carrying a de novo interstitial deletion of chromosome 3q22-q25. The clinical phenotype of this case included blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.
Woong Yang Park, Yong Seung Hwang, Ki Joong Kim, Eul-Ju Seo, Byung Chan Lim, Jong Hee Chae   +5 more
core   +1 more source

Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: A new syndrome complex?

Indian Journal of Ophthalmology, 2007
A 15-year-old girl with retinitis pigmentosa, blepharophimosis, blue dot cataract and primary overaction of inferior oblique muscle in both the eyes is being reported.
Vedantham Vasumathy, Jethani Jitendra, Agarwal Anil, Vijayalakshmi Perumalsamy   +3 more
doaj  

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

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, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan, Faiqa Imtiaz   +4 more
doaj   +1 more source