98%
921
2 minutes
20
Arthrogryposis multiplex congenita (AMC) is an uncommon condition present from birth that is marked by a combination of weakened muscles and multiple joint contractures. We present a case of a 2-year-old boy with AMC, who was born to consanguineous parents in Saudi Arabia. He presented with musculoskeletal abnormalities of all four limbs, including symmetric contractures in multiple joints of the body, bilateral developmental dysplasia of the hip, and vertical talus. Dysmorphic features included low-set ears, chin recession, triangular face, and nevus flammeus on the face. The child also had lactose intolerance, gastritis, inguinal hernia, and right-sided undescended testis. Surgical interventions were planned after a multidisciplinary team discussion. This case report highlights the good prognosis of AMC with all four-limb involvement and the importance of a thorough physical examination and a multidisciplinary approach to the diagnosis and management of AMC.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10524061 | PMC |
http://dx.doi.org/10.1177/2050313X231200418 | DOI Listing |
Reprod Domest Anim
September 2025
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Dystocia due to developmental disorders causing foetal malformation is a significant challenge in bovine obstetrics, often resulting in severe birth complications. This narrative review provides an updated overview of the most common congenital syndromes associated with dystocia in cattle, emphasising both their clinical implications and underlying causes. Congenital disorders such as schistosoma reflexum, perosomus elumbis, arthrogryposis, hydrocephalus, anasarca and embryonic duplication are reviewed in detail, along with their impact on the course of calving.
View Article and Find Full Text PDFJ Clin Orthop Trauma
November 2025
Department of Orthopaedics, Dhanalakshmi Srinivasan Medical College Hospital, Siruvachur, Tamilnadu, India.
Thumb-in-palm deformity significantly limits hand function in arthrogryposis multiplex congenita (AMC), resulting from intricate interactions between contracted thumb-index web skin, restrictive intrinsic musculature, joint instability, and compromised extrinsic tendons, collectively causing thumb adduction, flexion, and poor opposition. Due to the complexity of this deformity, surgical outcomes have historically varied. We introduced a severity-based classification system-mild, moderate, or severe-to guide treatment decisions.
View Article and Find Full Text PDFFront Rehabil Sci
August 2025
School of Physical and Occupational Therapy, Faculty of Medicine and Health Sciences, McGill University, Montreal, QC, Canada.
Introduction: Lower-extremity impairment is prevalent in children with Arthrogryposis multiplex congenita (AMC), frequently leading to mobility limitations. Without AMC-specific assessment tools, clinicians and researchers often employ tools that have not been formally validated for the AMC population. This study aims to establish the content validity of commonly used mobility measures in children with AMC following the COnsensus-based Standards for health Measurement INstruments (COSMIN) and the International Classification of Functioning, Disability, and Health (ICF) framework.
View Article and Find Full Text PDFJ Pediatr Orthop
August 2025
The Helmsley Pediatric & Adolescent Rehabilitation Research Center, ALYN Hospital, Jerusalem.
Background: Arthrogryposis multiplex congenita patients' functional abilities vary greatly, depending on the disease severity and treatment. This study aimed to identify and describe associations among physical impairments and long-term functional outcomes of adults with arthrogryposis.
Methods: We interviewed 42 adult patients (M=37 y, SD=12; range 20 to 74; 50% men) with arthrogryposis who were treated between 1988 and 2019 at a pediatric rehabilitation center or major adjacent general hospital.
Medicine (Baltimore)
August 2025
Department of Neonatology, Hangzhou Women's Hospital, Hangzhou, Zhejiang Province, China.
Rationale: Contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS) comprises a group of extremely rare genetic disorders characterized by congenital craniofacial and musculoskeletal abnormalities. With fewer than 500 cases reported globally, this scarcity contributes to limited clinical recognition, frequent diagnostic delays or errors, and missed opportunities for timely intervention. We present this case to enhance awareness of CPSFS and report a novel pathogenic variant in MYH3 (previously undocumented in the literature) that broadens the known mutational spectrum of MYH3 and enriches the phenotypic profile of CPSFS.
View Article and Find Full Text PDF