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
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Clinical features and orbital anomalies in Fraser syndrome and a review of management options [PDF]
Indian Journal of Ophthalmology, 2022 Purpose: Fraser syndrome is a rare congenital disorder comprising cryptophthalmos, syndactyly, and many times, urogenital anomalies. Herein, the authors aimed to study and report the clinical features and orbital anomalies in cases diagnosed with Fraser ...
Deepsekhar Das +4 more
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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
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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 +3 more
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Fraser Syndrome-Oral Manifestations and a Dental Care Protocol [PDF]
Case Reports in Dentistry, 2014 Fraser syndrome is a rare genetic malformation with an autosomal recessive pattern of inheritance and an incidence of consanguinity ranging from 15% to 25%.
Talita Lopes de Oliveira +1 more
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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 +6 more
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Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report [PDF]
BMC Pediatrics, 2019 Background Fraser syndrome is a rare genetic disorder that often presents with ocular, renal, genital and limb’s congenital anomalies. The prognosis of this genetic disorder depends on the severity of the combination of congenital malformations, some of ...
Aimé Mbonda +4 more
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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
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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
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Fraser Syndrome: A Stumbling Block for the Anaesthesiologist. [PDF]
Indian J Otolaryngol Head Neck Surg, 2022 Fraser syndrome is a rare autosomal recessive disorder with spectrum of malformations. Gamut of abnormal airway includes high arched palate, laryngeal atresia, hypoplasia, laryngeal stenosis etc. Laryngeal intubation difficulties have often been reported in literature.
Bathla S, Karim W, Kumar A, Bamba C.
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