ICNC2018 Abstracts & Symposia Proposals, ICNC 2014

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CONGENITAL AMYOPLASIA: REPORT OF 7 CASES
andres barrios, Ledia troncoso, alejandra mendez, pamela canales, jose zamora, guillermo guzman, daniela muñoz

Last modified: 2014-04-03

Abstract


Introduction: Arthrogryposis is defined as multiple congenital contractures involving two or more joints. The amyoplasia is a sporadic disease most often associated with arthrogryposis (38-43%) and characterized by aplasia or hypoplasia of the muscle tissue, usually in the four limbs (63%), but can also present with involvement of the upper extremities only (13%) and lower extremities (24%). The amyoplasia pathophysiological causes are not yet well established. Objective: report the clinical features of seven patients diagnosed with amyoplasia. Methods: Descriptive and prospective analysis of seven patients diagnosed in our center. Results: 7 patients, 5 men and 2 woman. 7/7 no pathology or toxic in pregnancy, 5/7 decreased fetal movements, 1/7 family history of hip dysplasia, 6/7 without antenatal diagnosis, 6/7 childbirth for cesarean, 5/7 contractures of upper and lower extremities, 2/7 have only lower extremities commitment, 4/7 presents hemangiomas, 7/7 surgical correction and motor rehabilitation early, 7/7 normal social and cognitive development, 3/7 achieve gait before 3 years of age with orthotic support, 2/7 Electromyography showed chronic neurogenic commitment axonal degeneration, 4/7 Marrow Ultrasound normal, 7/7 without other associated malformations. Conclusions: In our cases a predominance of males, with involvement of all 4 limbs, without other associated malformations, most of them have hemangiomas. All have normal intelligence and early surgery, kinesics and occupational intervention, which according to their age, has allowed them to develop abilities very close to normal.


Keywords


amyoplasia, children ,Arthrogryposis

References



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