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Fraser Syndrome: A Narrative Review Based on a Case from Vietnam and the Past 20 Years of Research [PDF]
DiagnosticsIntroduction: 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 +2 more
doaj +3 more sources
Prenatal hydrometrocolpos as an unusual finding in Fraser syndrome. Case report [PDF]
Case Reports in Perinatal Medicine, 2023 Fraser syndrome is a rare congenital malformation characterized by cryptophthalmos, syndactyly and urogenital tract malformations. The association with hydrometrocolpos is infrequent, with only a few cases reported in the literature.
Dávila Neri Isabella +4 more
doaj +2 more sources
Isolated Bilateral Complete Cryptophthalmos
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 +2 more
openaire +4 more sources
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 +11 more
doaj +2 more sources
Fraser syndrome in three consecutive siblings
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
Frem2 knockout mice exhibit Fraser syndrome phenotypes and neonatal lethality due to bilateral renal agenesis [PDF]
Scientific ReportsFraser 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 +9 more
doaj +2 more sources
Indian Journal of Pathology and Microbiology, 2008 Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy.
Kalpana Kumari M +3 more
doaj +1 more source
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 MedicineBackgroundFraser 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 +11 more
doaj +2 more sources
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 +3 more
doaj +2 more sources
Human Care Journal, 2021 Introduction : Cryptophthalmos (hidden eye) is a very rare disease. In these patients there is a failure of differentiation of the eyelid structures so that there is continuous skin from the forehead through the eyes to the cheeks and the undercoat fuses
Lestari, Puji Indah
core +4 more sources