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Pseudopapilledema in Cockayne syndrome [PDF]
American Journal of Ophthalmology Case Reports, 2021 Purpose: This report describes pseudopapilledema in two siblings with Cockayne syndrome and examines a structural mechanism for its development. Observations: Two siblings with genetically documented Cockayne syndrome, enophthalmos, and hyperopia were ...
Michael C. Brodsky, Deborah L. Renaud
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Radiology, 1972 Cockayne’s syndrome is a specific roentgenologic entity as well as a specific clinical entity, the radiologist being able to first suggest the diagnosis.The earliest roentgen findings, usually becoming noticeable during the 2nd and 3rd years of life, are microcephaly, posterior tapering of thoracic vertebral bodies, and steepening of the iliac angle in
B J Reilly
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Cells, 2021 Cockayne syndrome (CS) is a DNA repair syndrome characterized by a broad spectrum of clinical manifestations such as neurodegeneration, premature aging, developmental impairment, photosensitivity and other symptoms. Mutations in Cockayne syndrome protein
Zoi Spyropoulou +7 more
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Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome [PDF]
Human Genome Variation, 2022 We describe a case of Cockayne syndrome without photosensitivity in a Vietnamese family. This lack of photosensitivity prevented the establishment of a confirmed medical clinical diagnosis for 16 years.
Nguyen Thuy Duong +6 more
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Indian Journal of Dermatology, 2003 Cockayne syndrome is a rare autosomal recessive disease of complex clinical phenotype that usually presents in early childhood. Characteristically the child presents with delayed milestones, growth and mental retardation associated with typical facies ...
Sharma Nand Lal +3 more
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Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report [PDF]
Revista Brasileira de Anestesiologia, 2020 Cockayne syndrome is an autosomal recessive multi-systemic disorder due to DNA repair failure. It was originally described in 1936 in children of small stature, retinal atrophy and deafness, characterized by dwarfism, cachexia, photosensitivity ...
Viviane Barrada Ribeiro +5 more
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Frontiers in Genetics, 2022 Cockayne syndrome is a rare condition that encompasses a very wide spectrum of clinical severity. Mutations upstream of a transposon called PiggyBac Transposable Element Derived 3 in intron 5 of the CSB/ERCC6 gene could bring about less severe forms than
Rayanne Damaj-Fourcade +8 more
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Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing. [PDF]
PLoS ONE, 2014 Cockayne syndrome (CS) is a rare autosomal recessive disorder, the primary manifestations of which are poor growth and neurologic abnormality. Mutations of the ERCC6 and ERCC8 genes are the predominant cause of Cockayne syndrome, and the ERCC6 gene ...
Shanshan Yu +8 more
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Hepatic Failure following Metronidazole in Children with Cockayne Syndrome
Case Reports in Pediatrics, 2020 Cockayne syndrome is an uncommon autosomal recessive disease characterized by microcephaly, abnormal growth, and pathologic premature aging. The purpose of this report is to evaluate liver failure in children with Cockayne syndrome following ...
Pedram Ataee +2 more
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