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Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC).
Ital J Pediatr
January 2025
Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, China.
Background: Arthrogryposis multiplex congenita (AMC) is a congenital disorder characterized by multiple joint involvement, primarily affecting limb mobility and leading to various tissue contractures. Variations in the RIPK4 gene may impact connective tissues, thereby resulting in a spectrum of malformations. This study aimed to identify the genetic etiologies of AMC patients and provide genetic testing information for further diagnosis and treatment of AMC.
View Article and Find Full Text PDFIdentification of a de-novo variant of the MEGF10 gene associated with EMARDD.
Rev Esp Patol
January 2025
Laboratory of Genomics and Human Genetics, Pasteur Institute of Morocco, Casablanca, Morocco. Electronic address:
Early-onset Myopathy, Areflexia, Respiratory Distress and Dysphagia (EMARDD) is a congenital neuromuscular disease with a progressive muscle weakness, respiratory failure, joint contractures, and scoliosis without any symptoms of functional brain anomalies caused by variants in the MEGF10 gene. Here, we report the clinical phenotype and genetic features of a Moroccan patient who carries a novel variant associated with EMARDD on the MEGF10 gene. The Whole Exome Sequencing analysis conducted on a 11 year old boy with respiratory and swallowing difficulties revealed the presence of the novel variant c.
View Article and Find Full Text PDFTranscriptional Changes Associated with Amyoplasia.
Int J Mol Sci
December 2024
Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Centre "Kurchatov Institute", Gatchina 188300, Russia.
Arthrogryposis, which represents a group of congenital disorders, includes various forms. One such form is amyoplasia, which most commonly presents in a sporadic form in addition to distal forms, among which hereditary cases may occur. This condition is characterized by limited joint mobility and muscle weakness, leading to limb deformities and various clinical manifestations.
View Article and Find Full Text PDFFirst Palmar Intermetacarpal Flap for Congenital First Web Contracture: A Case Series.
Microsurgery
January 2025
Pediatric Hand Surgery and Microsurgery, Barcelona Children's Hospital, HM Nens, HM Hospitales, Barcelona, Spain.
Background: Pediatric first web space contractures of the hand can lead to disability in hand function. Several techniques have been proposed for treating this condition. Recently, a new technique involving the first palmar cutaneous flap was described in a cadaveric study.
View Article and Find Full Text PDFWieacker-Wolff syndrome with hyperinsulinemic hypoglycemia successfully treated using diazoxide: A case report.
Clin Pediatr Endocrinol
January 2025
Department of Pediatrics, The University of Tokyo, Tokyo, Japan.
Wieacker-Wolff syndrome (WRWF) is an X-linked genetic disorder characterized by neuromusculoskeletal abnormalities caused by loss-of-function variants of the gene. Here, we report the case of a male infant with WRWF manifesting as multiple joint contractures and congenital anomalies at birth. He underwent gastrostomy to treat the gastroesophageal reflux disease, which caused mixed apnea and transient bradycardia.
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