Results 21 to 30 of about 748 (171)
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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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
openaire +3 more sources
Bilateral cryptophthalmos-syndactyly syndrome [PDF]
Indian Journal of Ophthalmology, 1980 Gupta G, Gogi R
doaj +3 more sources
Cryptophthalmos and Bilateral Renal Agenesis with Cleft Lip and Palate: Fraser Syndrome: Case Report [PDF]
Gynecology Obstetrics & Reproductive Medicine, 2012 Fraser syndrome is a rare autosomal recessive disorder consisting of multiple anomalies including variable expression of cryptophthalmos, syndactyly, abnormal genitalia, malformations of the nose, ear and larynx, renal agenesis, oro-facial clefts ...
Emre Pabuçcu +4 more
doaj +1 more source
Demographics and histopathological characteristics of enucleated microphthalmic globes [PDF]
Scientific Reports, 2022 Microphthalmia is a rare ocular anomaly with a poorly understood etiology that is most likely related to heritable and/or environmental factors. Many papers have been published pertaining to the clinical manifestations and management of this condition ...
Hind M. Alkatan +3 more
doaj +2 more sources
Fraser Syndrome: A Rare Case Report [PDF]
Journal of Karnali Academy of Health Sciences, 2022 Fraser syndrome is a rare, autosomal recessive condition. It is characterized by cryptophthalmos, syndactyly, craniofacial dysmorphism, laryngeal and genitourinary malformations, and musculoskeletal anomalies. We report a case of a neonate who presented
Sandeep Shrestha +3 more
doaj +1 more source
Fraser Syndrome: A Report of Two Cases [PDF]
Haseki Tıp Bülteni, 2015 Fraser syndrome (cryptophthalmos syndactyly syndrome) is a rare autosomal recessive disorder. The main features are cryptophthalmos (hidden eye), ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital ...
Nihal Kılınç +2 more
doaj +3 more sources
The cryptophthalmos syndrome. [PDF]
JPMA. The Journal of the Pakistan Medical Association, 1990 [No abstract available]
Erdener A. +3 more
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Congenital Bilateral Cryptophthalmos with Orbito-Palpebral Cyst and Microphthalmos [PDF]
, 2023 Microphthalmia is regarded as the most common congenital malformation of the eye, second only to congenital cataract. Its association with an intraorbital cyst, however, is exceedingly rare.
Yarmohamadi, Afsaneh +2 more
core +2 more sources
Molecular Genetics &Genomic Medicine, Volume 9, Issue 4, April 2021., 2021 Whole‐exome sequencing was applied to hunt for possible etiologic variants in six individuals that presented with orofacial clefts and clubfoot. Our genomics and bioinformatics analyses revealed many genetic syndromes in four out of the six probands, with multiple variants in genes associated with certain genetic syndromes being observed in some ...
Lord J. J. Gowans +17 more
wiley +1 more source