Results 21 to 30 of about 2,641 (162)

Factors related to amblyopia in congenital ptosis after frontalis sling surgery

BMC Ophthalmology, 2018
Background Amblyopia is a main concern in children undergoing frontalis sling surgery for repairing congenital ptosis. This study aimed to evaluate factors related to amblyopia in children undergoing frontalis sling surgery.
Youn-Shen Bee, Pei-Jhen Tsai, Muh-Chiou Lin, Ming-Ying Chu   +3 more
doaj   +1 more source

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype [PDF]

: Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability.
Brusco, Alfredo, Alders, Mariëlle, Relator, Raissa, Brunetti-Pierri, Nicola, Hennekam, Raoul C M, Henneman, Peter, Zollino, Marcella, Oliveira, Daniela, Weber, Sacha, Trajkova, Slavica, Ciaccio, Claudia, Yamamoto, Toshiyuki, Sarli, Camilla, Bourgois, Alexia, Metcalfe, Kay, Skinner, Cindy, Reilly, Jack, Cappuccio, Gerarda, Sousa, Sergio, Tedder, Matthew L, Kini, Usha, Levy, Michael, Kerkhof, Jennifer, Sousa, Sergio B, Williams, Denise, Hennekam, Raoul, Vincent-Devulder, Aline, Sadikovic, Bekim, Vitobello, Antonio, McConkey, Haley, Levy, Michael A, Perrin, Laurence, Faivre, Laurence, van der Laan, Liselot, Carli, Diana, D'Arrigo, Stefano, Tedder, Matthew   +36 more
core   +3 more sources

A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome

Science Progress, 2020
The purpose of this study was to evaluate the functional and cosmetic outcomes of a new modified Fox pentagon technique performed using polytetrafluoroethylene in frontalis suspension surgery for blepharophimosis syndrome.
Yuan Wang, Qian Wu, Li Li, Wen Liu, Cheng Li, Yunwei Fan, WenHong Cao, Ningdong Li   +7 more
doaj   +1 more source

Triple trouble: Congenital nasolacrimal duct obstruction, cleft palate, and sensorineural hearing loss - A rare association of blepharophimosis-ptosis-epicanthus inversus syndrome

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, Sayali Santosh Amberkar, Priyanka Gandhi   +2 more
doaj   +1 more source

A Boy With Mental Retardation, Blepharophimosis And Hypothyroidism: A Diagnostic Dilemma Between Young-simpson And Ohdo Syndrome.

, 2015
We report a male infant with an association of hypothyroidism and unusual facies, including blepharophimosis, which is similar to the dysmorphic features observed in the condition first described by Young and Simpson [(1987) J Med Genet 24:715-7161.
Júnior, G G, Maciel-Guerra, A T, Baptista, M T, Marques-de-faria, A P   +3 more
core   +2 more sources

Anophthalmia Plus Syndrome: A Case Report of Severe Ocular and Systemic Anomalies in a Neonate [PDF]

Case Rep Med
Anophthalmia is a severe congenital ocular malformation characterized by the complete absence of one or both eyes, distinct from microphthalmia, in which the eye is significantly underdeveloped. This case report details a male infant born at 37 weeks of gestation via cesarean section because of a transverse lie and placental abruption, with low birth ...
Abushgair Z, Al-Shami K, Haddad Z, Qudah F, Al_Maghayreh M, Alshboul M, Ranjous Y.   +6 more
europepmc   +2 more sources

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

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, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

, 2020
Purpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides–Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital anomalies. Other disorders due
Low, Karen J., Wilson, Kate, Firth, Helen, Aref-Eshghi, Erfan, Jouan, Thibaud, Brunetti-Pierri, Nicola, Chapman, Kimberly A., Hennekam, Raoul C M, Chapman, Kimberly, Carrella, Diego, Sousa, Sérgio, Bruel, Ange Line, Metcalfe, Kay, Buchanan, Catherine A, Low, Karen, Chapman, Kimberly A, Piard, Juliette, C, George-Abraham, Jaya K., Dias, Cristina, Kerkhof, Jennifer, Moutton, Sébastien, Nigro, Vincenzo, Williams, Denise, Pinelli, Michele, Dubourg, Christèle, Gerard, Bénédicte, Vitobello, Antonio, Eichler, Evan, Moh, Anna, Dias, Cristina; id_orcid, ?, ?, Kennani, Sara El, Duffourd, Yannis, Thevenon, Julien, Vitiello, Giuseppina, Low, Karen J, Buchanan, Catherine, Piard, Juliette, Torella, Annalaura, Devillard, Françoise, Buchanan, Catherine A., Hančárová, Miroslava, Yamamoto, Toshiyuki, Piton, Amélie, George-Abraham, Jaya K, Thauvin-Robinet, Christel, Govin, Jérôme, Sá, Joaquim, Hennekam, Raoul, C M, Cappuccio, Gerarda, Bruel, Ange-Line, Eichler, Evan E, Kini, Usha, Sayou, Camille, Sadikovic, Bekim, Okamoto, Nobuhiko, Sousa, Sérgio B, Casari, Giorgio, Havlovicová, Markéta, Eichler, Evan E., Tanno, Pauline Le, Odent, Sylvie, Perrin, Laurence, Musacchia, Francesco, Van-Gils, Julien, Mutarelli, Margherita, Tisserant, Emilie, George-Abraham, Jaya, Le Guyader, Gwenaël   +68 more
core   +4 more sources

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient

Egyptian Journal of Medical Human Genetics, 2022
Background Intellectual developmental disorder with dysmorphic facies and ptosis (MIM #617333) is a very rare condition, characterized by more than 80% by language delay, intellectual disability, gross motor development delay, broad nasal bridge ...
Hugo H. Abarca-Barriga, Felix Chavesta Velásquez, Renzo Punil Luciano   +2 more
doaj   +1 more source