Children with arthrogryposis multiplex congenita often require multiple orthopedic corrective procedures. We present a case of a child with arthrogryposis multiplex congenita posted for contracture release of both lower limbs that were successfully managed with total intravenous anesthesia and caudal epidural analgesia with Bupernorphine as an additive.
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http://dx.doi.org/10.4103/0259-1162.103380 | DOI Listing |
Clin Case Rep
January 2025
Craig R Dufresne Fairfax Virginia USA.
Freeman-Burian syndrome is a rare craniofacial syndrome surrounded by fake news. This situation shows the strong connection between the quality of a literature search and clinical reasoning displayed in patient care, especially in care of patients with rare conditions.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», 188300 Gatchina, Russia.
Bruck syndrome is a rare autosomal recessive disorder characterized by increased bone fragility and joint contractures similar to those in arthrogryposis and is known to be associated with mutations in the () and () genes. These genes encode endoplasmic reticulum proteins that play an important role in the biosynthesis of type I collagen, which in turn affects the structure and strength of connective tissues and bones in the body. Mutations are associated with disturbances in both the primary collagen chain and its post-translational formation, but the mechanism by which mutations lead to Bruck syndrome phenotypes has not been determined, not only because of the small number of patients who come to the attention of researchers but also because of the lack of disease models.
View Article and Find Full Text PDFChildren (Basel)
December 2024
Department of Women's and Children's Health, Division of Paediatric Neurology, Karolinska Institutet, Karolinska University Hospital, S-17176 Stockholm, Sweden.
Background/objectives: Proprioception and sensory disorders have been reported in children with arthrogryposis multiplex congenita (AMC) and myelomeningocele (MMC), but valid and reliable assessment tools are limited in accurately identifying the sensory aspects of motor disorders. This study aimed to investigate the somatosensory status in the feet and legs. An additional purpose of this study was to explore pain, skin irritations, and health status.
View Article and Find Full Text PDFClin Genet
January 2025
Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
SUMOylation involves covalent attachment of small ubiquitin-like modifier (SUMO) proteins to specific lysine residues on target proteins and regulates various aspects of their function. Sentrin-specific proteases (SENPs) are key players in both the conjugation reaction of SUMO proteins to their targets and the subsequent deconjugation of SUMO-conjugated substrates. Here, we provide the first comprehensive prenatal description of a lethal syndrome linked to a novel homozygous stop-gain variant in SENP7 c.
View Article and Find Full Text PDFClin Genet
January 2025
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder associated with 1/3000 to 1/5000 live births. We report a consanguineous family with multiple affected members with AMC and identified a recessive mutation in the highly conserved splice donor site, resulting in the mis-splicing of the affected exons. SENP7 is a deSUMOylase that is critical for sarcomere assembly and skeletal muscle contraction by regulating the transcriptional program in the skeletal muscle.
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