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Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.
Ital J Pediatr
September 2024
Neonatal Intensive Care Unit, "Bambino Gesù" Children's Hospital IRCCS, Rome, 00165, Italy.
Background: Neonatal Marfan syndrome (nMFS) is a rare condition characterized by severe phenotype and poor prognosis. nMFS is caused by mutations in a specific region of the fibrillin 1 gene (FBN1). Prompt recognition of typical signs of neonatal presentation, such as characteristic facial anomalies with senile appearance, arthrogryposis, and campto-arachnodactyly, is fundamental for performing an early cardiological examination.
View Article and Find Full Text PDFOccurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature.
Am J Med Genet A
December 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in FBN1, with a hitherto unknown association with cancer. Here, we present two females with MFS who developed pediatric neuroblastoma. Patient 1 presented with neonatal MFS and developed an adrenal neuroblastoma with unfavorable tumor genetics at 10 months of age.
View Article and Find Full Text PDF[Correlation of posterior segment lesions with anterior segment biometric parameters and FBN1 genotype in patients with Marfan syndrome].
Zhonghua Yan Ke Za Zhi
July 2024
Department of Ophthalmology & Visual Science, Shanghai Medical College of Fudan University, Department of Ophthalmology, Eye & ENT Hospital of Fudan University, NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China.
To investigate the characteristics of posterior segment lesions in Marfan syndrome (MFS) patients and their relationship with anterior segment biometric parameters and FBN1 genotype. A cross-sectional study was conducted. A total of 121 MFS patients, 76 males and 45 females, with an average age of (11.
View Article and Find Full Text PDFHigh-Throughput Genomics Identify Novel Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
Int J Mol Sci
May 2024
Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Fibrillin-1 and fibrillin-2, encoded by and , respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of connective tissue disorders such as Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCD). Different genomic variations may lead to heterogeneous phenotypic features and functional consequences. Recent high-throughput sequencing modalities have allowed detection of novel variants that may guide the care for patients and inform the genetic counseling for their families.
View Article and Find Full Text PDFMitral annular disjunction and its progression during childhood in Marfan syndrome.
Eur Heart J Cardiovasc Imaging
August 2024
Division of Cardiology, Texas Children's Hospital, 6651 Main Street MC-E1920, Houston, TX 77030, USA.
Aims: Data on mitral annular disjunction (MAD) in children with Marfan syndrome (MFS) are sparse. To investigate the diagnostic yield of MAD by echocardiography and cardiac magnetic resonance imaging (CMR), its prevalence and progression during childhood.
Methods And Results: We included patients <21 years old with MFS, defined by 2010 Ghent criteria and a pathogenic FBN1 variant or ectopia lentis.
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