A Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria. [PDF]
Clin Case RepABSTRACT We report a 39‐year‐old woman with lifelong visual impairment who presented in June 2024 with progressive visual deterioration in her right eye. Ophthalmologic evaluation revealed severe high myopia, vitreoretinal degeneration, phthisis bulbi of the left eye, and downward lens dislocation of the right eye.
Asadollahzadeh E +4 more
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Circulation, 1959 Arachnodactyly is often associated with cardiovascular lesions. Most frequent are aortic abnormalities but congenital anomalies of the heart may be present. Another cardiac lesion has been found in some cases of arachnodactyly.
exaly +4 more sources
Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly
Frontiers in Genetics, 2022 Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder of connective tissue characterized by crumpled ears, arachnodactyly, camptodactyly, large joint contracture, and kyphoscoliosis. The nature course of CCA has not been well-
Yingzhao Huang, Sen Zhao, Ge Xiong
exaly +3 more sources
Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome [PDF]
Human Genome VariationHere we report an 18-year-old male patient with bilateral ectopia lentis and biallelic CPAMD8 variants (NM_015692.5:c.[2801delG];[4552C>T]; NP_056507.3:p.[(Gly934GlufsTer64)];[(Gln1518Ter)]).
Daiju Oba +5 more
doaj +2 more sources
Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation [PDF]
International Dental Journal: Biallelic variants in the PEX1 and PEX6 genes are implicated in Heimler syndrome, which is characterized by amelogenesis imperfecta, sensorineural hearing loss, retinitis pigmentosa, and nail defects.
Piranit N. Kantaputra +11 more
doaj +2 more sources
A case of de novo duplication of 15q24-q26.3 [PDF]
Korean Journal of Pediatrics, 2011 Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations.
Eun Young Kim +6 more
doaj +3 more sources
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations [PDF]
Molecular Genetics and Metabolism ReportsBackground: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder caused by mutations in the fibrillin-2 (FBN2) gene, characterized by crumpled ears, arachnodactyly, camptodactyly, dolichostenomelia, large ...
Yazhou Huang +6 more
doaj +2 more sources
Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families [PDF]
Molecular Genetics and Metabolism ReportsBackground: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder caused by pathogenic variants of Fibrillin-2 (FBN2) gene. This study aimed to investigate the variants in three Chinese families with CCA.
Yu Sui +6 more
doaj +2 more sources
Novel variant of FBN2 in a patient with congenital contractual arachnodactyly [PDF]
Human Genome VariationCongenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome.
Mina Nakama +4 more
doaj +2 more sources
Frontiers in Genetics, 2023 Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants
An-Lei Li +19 more
doaj +1 more source