Results 21 to 30 of about 598 (144)
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
Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity [PDF]
Frontiers in MedicineBackground and objectivesCongenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder, and FBN2 is its only known causative gene.
Nan-Miao Wang +11 more
doaj +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 +2 more sources
Clinical Features of Congenital Contractural Arachnodactyly
Congenital Anomalies (discontinued), 1993 ABSTRACT Clinical features of 11 cases of congenital contractural arachnodactyly (CCA) were reported. Eight cases were male and 3 cases were female. Family history was positive in 6 cases of 3 families. As for hand deformity, flexion of the finger, adduction of the thumb and shortening of the palmar skin were observed in all cases, arachnodactyly in ...
Toshihiko Ogino, Masatoshi Takahara
exaly +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
Transient Cardiomyopathy in a Patient with Congenital Contractural Arachnodactyly (Beals Syndrome)
Journal of Nippon Medical School, 2006 We report on an infant with Beals syndrome (congenital contractural arachnodactyly [CCA], MIM 121050) with transient cardiomyopathy showing ballon-like dilatation of the left ventricle that was similar to noncompaction. The patients father and two of his brothers were also found to have CCA without cardiovascular complications.
Atsushi Watanabe +2 more
exaly +4 more sources
Congenital Contractural Arachnodactyly (Beals-Hecht Syndrome): A Case Report
Haseki Tıp Bülteni, 2011 Ali Karaman, Hasan Kahveci
doaj +1 more source
IET Systems Biology, Volume 17, Issue 4, Page 162-173, August 2023., 2023 We systematically investigated the effects and mechanisms of FBN2 on BLCA and provided a new understanding of the role of FBN2 as a risk factor and TME influencer in BLCA. Abstract Bladder cancer (BLCA) is a common and difficult‐to‐manage disease worldwide. Most common type of BLCA is urothelial carcinoma (UC).
Zechao Lu +12 more
wiley +1 more source
Role of fibrilins in human cancer: A narrative review
Health Science Reports, Volume 6, Issue 7, July 2023., 2023 Abstract Background Fibrillin is one of the extracellular matrix glycoproteins and participates in forming microfibrils found in many connective tissues. The microfibrils enable the elasticity and stretching properties of the ligaments and support connective tissues.
Mahsa Mahdizadehi +3 more
wiley +1 more source