Results 81 to 90 of about 1,143,678 (194)

Management of Patella Dislocation in Say-Barber-Biesecker-Young-Simpson’s Syndrome: A Report of Two Cases

Case Reports in Orthopedics, 2018
Say-Barber-Biesecker-Young-Simpson’s syndrome is one of the Ohdo-like syndromes. It is a very rare congenital condition that is commonly defined by its main clinical features that are blepharophimosis, ptosis, mental retardation, and delayed motor ...
Meni Mundama, Serge Ayong, Renaud Rossillon   +2 more
doaj   +1 more source

Microcephaly and Blepharophimosis in a girl with 46,XX,ins(6;3)(q23;q27q21)

, 2021
This clinical report describes a one year old girl with severe microcephaly,moderate developmental delay and blepharoimosis. She had no internalorgan malformations and structural brain abnormalities. Frequent upperrespiratory infections were noted.
Toksoy, Güven, Sayar, Ceyhan, Yeşil Sayın, Gözde   +2 more
core  

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  

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Stem Cell Research
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

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

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

Ptosis congénital: expérience d'un centre de soins tertiaires Marocain et mise au point

The Pan African Medical Journal, 2014
Le ptosis congénital constitue la malposition palpébrale la plus fréquente de l'enfant. Le but de ce travail est de rapporter l'expérience de notre service dans la prise en charge de cette affection.
Hanan Handor, Zouheir Hafidi, Moulayzahid Bencherif, Youssef Amrani, Adil belmokhtar, Mina Laghmari, Rajae Daoudi   +6 more
doaj   +1 more source

Comparison of Triangular Technique, Double Triangular Technique and Pentagonal Technique of Frontalis Sling Surgery in Ptosis Correction

Delhi Journal of Ophthalmology, 2012
Purpose: To compare Triangular technique, Double Triangular technique and Pentagonal technique of Frontalis Sling surgery in ptosis correction in congenital ptosis patients. Methods: Cases with bilateral congenital simple ptosis with poor levator action,
Kumar Vivek, Reetika, Vinay Kumar, Anasua Ganguly, Nilesh Mohan, Mandeep S Bajaj, Supriyo Ghose   +6 more
doaj   +1 more source

Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome

, 1989
From the Hospitals for Sick Children, Great Ormond Street, London WCJN 3JH. SUMMARY Non-penetrance or minimal expression as a genetic counselling problem in the blepharophimosis syndrome is discussed.
I K Temple, I K Temple, M Baraitser
core   +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