Congenital contractural arachnodactyly (Beals syndrome) [PDF]
Orphanet Journal of Rare Diseases, 2006 Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
Alanay Yasemin, Tunçbilek Ergül
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A novel FBN 2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family [PDF]
Clinical Case Reports (discontinued), 2018 Key Clinical Message We identified a novel heterozygous mutation (c.4177T>G and p.Cys1393Gly) in FBN2 that cosegregated with congenital contractural arachnodactyly (CCA) in a five‐generation Chinese family.
Chengqi Xu
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Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene (FBN2).
Lin Hu +6 more
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Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene [PDF]
Clinical Case Reports, 2022 Congenital contractural arachnodactyly (CCA) is caused by pathogenic FBN2 variants; however, the contributions of copy number variations (CNVs) to CCA are still unknown.
Hiroki Yagi +9 more
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Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly [PDF]
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
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Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly [PDF]
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-
Liying Sun +38 more
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Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dubé Syndrome and Congenital Contractural Arachnodactyly [PDF]
Frontiers in Genetics, 2022 Background: Birt-Hogg-Dubé (BHD) syndrome and congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome are clinically rare autosomal dominant genetic diseases.
Jiayong Qiu +7 more
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A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly [PDF]
Frontiers in Genetics, 2020 Congenital contractural arachnodactyly (CCA) is an extremely rare monogenic disorder in humans, and the prevalence of CCA is estimated to be less than 1 in 10,000 worldwide.
Peiwen Xu +33 more
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Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. [PDF]
PLoS ONE, 2016 Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue.
Hao Deng +10 more
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Congenital Contractural Arachnodactyly
Pediatric Neurology Briefs, 1990 An infant girl with arachnodactyly and spontaneously resolving contractures who died in cardiac failure is reported from the Paediatric Unit, Northern General Hospital and Department of Ophthalmology, Royal Hallamshire Hospital, Sheffield, England.
J Gordon Millichap
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