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Spine deformity surgery in patients with Beals syndrome can be effectively performed but does risk revision surgery.
Spine Deform
October 2024
Texas Scottish Rite Hospital for Children, 2222 Welborn St., Dallas, TX, 75219, UK.
Article Synopsis
- * A study involving eight patients with Beals syndrome showed significant improvement in spinal curvature after surgery, with corrections averaging from 82.3° to 42.1° at final follow-up.
- * While no patients experienced permanent neurological deficits post-surgery, 25% required additional operations for complications like implant dislodgement, highlighting the complexity of surgical management in this population.
FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.
Connect Tissue Res
May 2024
Division of Cardiology, Departments of Internal Medicine and Genetic Diagnosis Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Article Synopsis
- Congenital contractural arachnodactyly (CCA) is a rare genetic disorder linked to mutations in the FBN2 gene, presenting symptoms like arachnodactyly and joint contractures but typically lacks severe heart issues found in similar disorders like Marfan syndrome.
- A new splice-altering variant (c.4472-3C>A) was discovered in the FBN2 gene through advanced genetic sequencing, affecting how the gene's RNA is processed and leading to significant changes in the protein it encodes.
- The study highlights specific regions of the FBN2 gene that may lead to serious cardiovascular concerns, suggesting that patients with these mutations should undergo thorough heart evaluations.
A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly.
Biochem Genet
August 2024
Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China.
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 to be associated with CCA. In this study, we report on a prenatal case presented with skeletal, cardiac and spinal malformations.
View Article and Find Full Text PDFGenotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.
BMC Pediatr
October 2023
Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariskiu st. 2, LT-08661, Vilnius, Lithuania.
Article Synopsis
- Marfan syndrome is a genetic disorder impacting connective tissue, with severe cases linked to specific variants in the fibrillin-1 (FBN1) gene.
- A study of clinical and genetic data from 52 patients revealed that most pathogenic variants were found in exons 24-32 of the FBN1 gene, with common skeletal features including arachnodactyly and scoliosis.
- The research highlights the need for personalized management strategies based on the genotype and clinical manifestations, as certain variants correlate with poorer outcomes in patients.
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