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Arthrogryposis multiplex congenita
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Arthrogryposis multiplex congenita (arthrogryposis) is a rare condition that describes multiple severe bony deformities and contractures in the newborn. Arthrogryposis has a prevalence of 1 in 3000, however, at least 1 in 200 neonates are born with some degree of joint contractures, the most common being talipes equinovarus (1 in 500) and congenital hip dislocation (1 in 200–500). In 2007 a case of arthrogryposis was diagnosed at a district general hospital at 17 weeks following a detailed scan due to a marginally raised maternal serum alphafetoprotein level. The pregnancy was terminated and a postmortem examination identified further underlying anomalies that may have been the cause of the arthrogryposis. This report assesses the value of prenatal ultrasound in the identification of arthrogryposis.
Arthrogryposis multiplex congenita
Muscle contracture
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Arthrogryposis is a sign associated with many specific conditions and syndromes. It is a term used to describe the presence of multiple joint contractures that are present at birth. It can be seen in isolation or in association with other congenital abnormalities as part of a syndrome with or without central nervous system involvement. The exact pathogenesis of arthrogryposis is unknown, but all involve fetal akinesia (decreased fetal movement) with subsequent joint contractures. In this article I describe the causes, genetic aspects, classification, and approach to diagnosis.
Arthrogryposis multiplex congenita
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Arthrogryposis multiplex congenita is a rare, nonprogressive congenital disorder that describes a constellation of conditions characterized by multiple joint contractures. Spinal pathology and deformity are common; however, the majority of the literature on arthrogryposis is focused on pediatric management. There exist very few reports on long-term outcomes and management of adults with arthrogryposis. We present a case of cervical spinal stenosis in an adult female with arthrogryposis that underwent posterior cervical decompression and fusion. A review of spine-related sequelae seen in adults with arthrogryposis and considerations for spinal surgery for these patients is discussed.
Arthrogryposis multiplex congenita
Muscle contracture
Joint Contracture
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Arthrogryposis multiplex congenita
Muscle contracture
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Arthrogryposis multiplex congenita
Muscle contracture
Fetal movement
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To identify all patients with arthrogryposis multiplex congenita presenting to a specialized pediatric orthopedic institution over a 28-year period; classify them into three groups (general arthrogryposis not otherwise specified [NOS], amyoplasia, or distal arthrogryposis); report the frequency of various musculoskeletal features; and determine the rate of operative treatment.Patients with arthrogryposis under the age of 18 years who presented between 1990 and 2017 were included. Patients were placed into one of three groups based on clinical features and family history when available. Age of presentation, joint involvement, and utilization of surgical treatment were recorded.There were 417 patients in total (184 females, 233 males); 235 patients (56.4%) had general arthrogryposis NOS, 107 (25.7%) had amyoplasia, and 75 (18.0%) had distal arthrogryposis. Patients with amyoplasia presented at a younger age (median 4mo) than those with general arthrogryposis NOS (median 1y 3mo, p=0.005), and had a lower rate of spine involvement than patients with general arthrogryposis NOS (p=0.004) and distal arthrogryposis (p=0.023). The average number of surgeries across all patients was 1.9 (SD 2.2).Pediatric patients with amyoplasia present to orthopedic care earlier and are less likely to have spine involvement than other forms of arthrogryposis. Multiple surgeries are common among all patients with arthrogryposis.
Arthrogryposis multiplex congenita
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In part I the authors deal with the present possibilities of the diagnostics and therapy of arthrogryposis multiplex congenita. They proceed from the classification after Hall of 1982 (classification of the so-called distal arthrogryposis) and of 1983 where congenital contractures are divided into three groups according to associated system anomalies. On the basis of their own experience they deal in details with distal arthrogryposis - amyoplasia which differs from spinal degenerative diseases by 3 symptoms: 1. it does not deteriorate after the birth, 2. nerves are not affected, 3. intelligence is normal. Differential diagnostics is carried out on the basis of clinical-genetic examination. Dermatoglyphic examination contributes to an early diagnosis mainly in distal arthrogryposis. The seriousness of neurogenic or myogenetic affection is determined by EMG examination. The authors compare therapeutical literary aspects with their own methods of treatment. The evaluation of diagnostic and therapeutical results is presented in part II of the communication. Key words: arthrogryposis multiplex congenita, amyoplasia, distal arhtrogryposis, electromyography, dermatoglyphes, surgical treatment.
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Arthrogryposis multiplex congenita
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