Clinical Characteristics and Genetic Analysis of Birt-Hogg-Dubé Syndrome With Congenital Contractural Arachnodactyly in a Family [PDF]
, 2021 Background Birt-Hogg-Dubé Syndrome (BHD syndrome) and congenital contractural arachnodactyly (CCA) or Beals Hecht Syndrome (BHS) are clinically rare autosomal dominant genetic diseases.
Jiayong Qiu +7 more
semanticscholar +2 more sources
Dilatation of the Great Arteries in an Infant with Marfan Syndrome and Ventricular Septal Defect [PDF]
Case Reports in Medicine, 2011 We describe an infant presenting with contractures of the fingers, a large ventricular septal defect (VSD), and severe pulmonary artery dilatation. He had clinical and echocardiographic features of both neonatal or infantile Marfan syndrome (MFS) and ...
L. Rozendaal +3 more
doaj +3 more sources
Seizures as an Atypical Feature of Beal’s Syndrome [PDF]
Sultan Qaboos University Medical Journal, 2016 Congenital contractural arachnodactyly, commonly known as Beal’s syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23.
Nazreen B. K. Jaman, Abeer Al-Sayegh
doaj +4 more sources
A clinical scoring system for congenital contractural arachnodactyly
Genetics in Medicine, 2020 Meerschaut, Ilse +4 more
exaly +5 more sources
A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant [PDF]
Respiratory Medicine Case Reports, 2023 Pleuroparenchymal fibroelastosis is a recently recognized clinical entity characterized by interstitial pneumonia with proliferating elastin in the upper lung regions. Pleuroparenchymal fibroelastosis is categorized as idiopathic or reported depending on
Kouko Hidaka +7 more
doaj +2 more sources
Marfan Syndrome, A Review [PDF]
Journal of Biomedicine and Translational Research, 2018 Marfan syndrome is named after the French pediatrician Antoine Bernard-Jean Marfan who described in 1896 a girl with arachnodactyly and long limbs1. The patient also had congenital contractures of the elbows and would not fulfill the current criteria for
Gerard Pals
doaj +3 more sources
Internal medicine, 2015 Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by marfanoid habitus with camptodactyly. However, cardiac features have rarely been documented in adults. We herein report a sporadic case of CCA in a 20-year-
Hiroki Yagi +14 more
semanticscholar +3 more sources
Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family [PDF]
BMC Medical Genomics, 2022 Background Osteogenesis imperfecta (OI) is the most common monogenic disease of the skeletal system and is usually caused by mutations in the COL1A1 or COL1A2 genes.
Jing Chen +7 more
doaj +2 more sources
Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly
Clinical Genetics, 2017 No abstract ...
A. Lavillaureix +10 more
semanticscholar +3 more sources
Possible break-down of redox homeostasis in Beals-Hecht syndrome [PDF]
Scientific ReportsBeals-Hecht (BH) syndrome is a rare autosomal dominant disorder caused by a mutation of the FBN-2 gene that codifies for fibrillin-2 (FBN-2). Its nosology includes congenital contractural arachnodactyly. The aim of this study was to evaluate the possible
María Elena Soto +3 more
doaj +2 more sources