Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly. [PDF]
Int J Mol Sci, 2017 Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, camptodactyly, contrature of major joints, scoliosis, pectus deformities, and crumpled ears.
You G, Zu B, Wang B, Wang Z, Xu Y, Fu Q.
europepmc +6 more sources
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 Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly. [PDF]
Biochem Genet, 2023 Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by arachnodactyly, multiple joint contractures, progressive kyphoscoliosis, pectus deformity and abnormal crumpled ears. FBN2 is the only gene currently known
Zhang C +6 more
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Congenital contractural arachnodactyly [PDF]
Definitions, 2020 Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly).
INSERM
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Congenital contractural arachnodactyly suspected by abnormally long extremities by fetal ultrasound. [PDF]
BMJ Case Rep, 2021 Congenital contractural arachnodactyly (CCA) is a rare disease with the clinical features of limited extension of multiple joints, arachnodactyly, camptodactyly, thin and long extremities, and so on. In the point of long extremities, CCA resembles Marfan
Miyake R, Ichikawa M, Naruse K.
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A 36-Year-Old Female With Congenital Contractural Arachnodactyly and Pectus Excavatum Requiring Fourth-Time Redo Surgical Correction. [PDF]
Cureus, 2021 Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder that has several phenotypic similarities to Marfan syndrome.
Dada RS +4 more
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Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly. [PDF]
BMC Med Genet, 2016 BackgroundCongenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide.
Guo X +14 more
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Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report [PDF]
Arquivos de Neuro-Psiquiatria, 2001 We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA).
Rosana Herminia Scola +5 more
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Two cases of Birt-Hogg-Dubé syndrome combined with congenital contractural arachnodactyly. [PDF]
Quant Imaging Med Surg, 2023 Wu C, Qiang J, Wang H, Xiao M.
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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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