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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.
Missense variants of associated with congenital arachnodactyly in three Chinese families.
Mol Genet Metab Rep
December 2024
Department of Medical Genetics, Liaoning Institute of birth health and development, Reproductive Hospital of China Medical University, 10 Puhe street, Huanggu District, Shenyang city, Liaoning Province 110031, China.
Background: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder caused by pathogenic variants of Fibrillin-2 () gene. This study aimed to investigate the variants in three Chinese families with CCA.
Methods: Next-generation sequencing analysis and Sanger sequencing of exons 24-35 of (NM_001999.
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 PDFFacial dysmorphism and Limb abnormalities of Fetal Valproate Syndrome.
QJM
August 2024
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 342005, India.
A neonate born to nonconsanguineous parents was evaluated for dysmorphic features. The neonate was born at term by normal vaginal delivery. The mother has had epilepsy for 12 years and has been on sodium valproate (700 mg/day) since conception and throughout pregnancy.
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