Results 11 to 20 of about 748 (171)

The Metabolic Reprogramming of Frem2 Mutant Mice Embryos in Cryptophthalmos Development [PDF]

Frontiers in Cell and Developmental Biology, 2021
BackgroundCryptophthalmos is characterized by congenital ocular dysplasia with eyelid malformation. The pathogenicity of mutations in genes encoding components of the FRAS1/FREM protein complex is well established, but the underlying pathomechanisms of ...
Xiayin Zhang, Ruixin Wang, Ting Wang, Xulin Zhang, Meimei Dongye, Dongni Wang, Jinghui Wang, Wangting Li, Xiaohang Wu, Duoru Lin, Haotian Lin, Haotian Lin   +11 more
doaj   +2 more sources

Fraser Syndrome: A Narrative Review Based on a Case from Vietnam and the Past 20 Years of Research [PDF]

Diagnostics
Introduction: Fraser syndrome (FS) is a rare autosomal recessive disorder. However, the clinical presentation remains variable. Diagnosis is based on a series of major and minor clinical criteria that can be supported by genetic tests. Prenatal diagnosis
Xuan Trang Thi Pham, Phuc Nhon Nguyen, Xuan Song Hoang   +2 more
doaj   +2 more sources

Isolated Bilateral Complete Cryptophthalmos [PDF]

Nepalese Journal of Ophthalmology, 2017
Cryptophthalmos is a rare congenital anomaly, characterized by extension of the skin continuously from forehead onto the cheeks and covering eyeballs. Although cryptophthalmos, as a part of Fraser syndrome, has been reported many times, isolated cryptophthalmos without systemic associations is very rare.
Javed Hussain, Farooqui, Thanh Huy, Thiên Hà, Ahmed, Gomaa   +2 more
openaire   +4 more sources

Frem2 knockout mice exhibit Fraser syndrome phenotypes and neonatal lethality due to bilateral renal agenesis [PDF]

Scientific Reports
Fraser syndrome is a rare autosomal recessive disorder characterized by multiple congenital malformations, including cryptophthalmos, syndactyly, and renal agenesis, which can lead to severe complications beginning at the embryonic stage.
Rubina G. Simikyan, Xinyuan Zhang, Olga Strelkova, Nathan Li, MengYu Zhu, Andreas Eckhard, Petr Y. Baranov, Xudong Wu, Lauren Richey, Artur A. Indzhykulian   +9 more
doaj   +2 more sources

Case Report: A case of Fraser syndrome 2 in a Chinese fetus caused by novel compound heterozygous variants in the FREM2 gene [PDF]

Frontiers in Medicine
BackgroundFraser syndrome (FS) is an autosomal recessive inherited malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tracts. Variants in the FRAS1-related extracellular matrix 2 (FREM2)
Weidong Wei, Weidong Wei, Yinan Fan, Jiaqi Song, Yedan Lou, Tao Zhang, Tao Zhang, Hua Yuan, Hua Yuan, Jieyuan Jin, Sinan Zhang, Xin Jin   +11 more
doaj   +2 more sources

Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report [PDF]

BMC Pregnancy and Childbirth, 2020
Background Fraser syndrome or “cryptophthalmos syndrome” is a rare autosomal recessive disease. It is characterized by a group of congenital malformations such as: crytophthalmos, syndactyly, abnormal genitalia, and malformations of the nose, ears, and ...
Muhamad Zakaria Brimo Alsaman, Sarab Agha, Hala Sallah, Rayan Badawi, Mohammad Nour Kitaz, Abdullah Assani, Hamdi Nawfal   +6 more
doaj   +2 more sources

Reconstruction strategy in isolated complete Cryptophthalmos: a case series [PDF]

BMC Ophthalmology, 2019
Background The present study sought to introduce clinical characteristics and stepwise surgical strategies of isolated complete cryptophthalmos, a rare, congenital ocular anomaly. Case presentation Retrospective, noncomparative, clinical study.
Zhaochuan Liu, Binyu Xie, Yang Li, Jingwen Ding, Dongmei Li   +4 more
doaj   +2 more sources

Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review [PDF]

Allergy & Rhinology, 2018
Background Fraser syndrome is an autosomal recessive disorder characterized primarily by syndactyly, cryptophthalmos, urinary tract anomalies, ambiguous genitalia, and laryngeal anomalies.
Megan E. Falls BA, Michael P. Rabinowitz MD, Jacqueline R. Carrasco MD, Mindy R. Rabinowitz MD   +3 more
doaj   +2 more sources

Fraser syndrome in three consecutive siblings [PDF]

Oman Journal of Ophthalmology, 2011
Fraser syndrome (FS) is a rare disorder characterized by a combination of acrofacial and urogenital malformations with or without cryptophthalmos.
Kaarthigeyan Kalaniti, V Sandhya
doaj   +2 more sources

Clinical applications of the amniotic membrane in pediatric ocular pathology: a scoping review [PDF]

BMC Ophthalmology
Introduction The amniotic membrane (AM), which is derived from the placenta and is composed of columnar epithelium, a basement membrane, and an avascular stroma, is commonly preserved through cryopreservation.
Laura Valentina Botia Suárez, Laura Vanesa Henao Ramírez, José Enrique Graterol Porras, María Paola Lubo López, Lev Bladimir Ramirez Martinez, Maria Alejandra Charria Mejia, Luis Gustavo Celis Regalado   +6 more
doaj   +2 more sources