2016, Number 4
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An Med Asoc Med Hosp ABC 2016; 61 (4)
Arthrogryposis multiplex congenita: case report
Polania RM, Nájera RS, Lamshing SP
Language: Spanish
References: 17
Page: 286-290
PDF size: 369.18 Kb.
ABSTRACT
Introduction: The arthrogryposis multiplex congenita, is a non-progressive clinical syndrome characterized by the presence of several joints stiffness and tightness, they appear in the prenatal period, and are present at birth. The severity of the disease is variable and there are numerous possible underlying causes.
Objective: Contribute to the literature with an arthrogryposis multiplex congenital case and review the etiology and treatment of this congenital disease.
Case presentation: This is a 38 weeks of gestation newborn, female, who presented generalized contracture of elbows, hips and knees, total bilateral camptodactyly (bending fingers of both hands) , no apparent change in shoulders or meniscus, stable hips, severe limitation to abduction, severe valgus feet, talo not reduced and plants in rocking chair.
Conclusion: The prevalence of arthrogryposis multiplex congenita, is variable within the heterogeneous group of arthrogryposis, being the most frequent classical arthrogryposis multiplex, which represents more than 40-50% of affected children. The specific etiologic search should be systematic: for diagnostic purposes to try to establish a genetic counseling and a target of vital and functional prognosis, management and treatment must be carried out by a multidisciplinary team.
REFERENCES
Porter HJ. Letal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). Pediatr Pathol Lab Med. 1995; 15 (4): 617-637.
Obeidat MM, Audat Z, Khriesat W. Short-term functional outcome in children with arthrogryposis multiplex congenita after multiple surgeries at an early age. J Multidiscip Health. 2012; 5: 195-200.
Darin N, Kimber E, Kroksmark AK, Tulinius M. Multiple congenital contractures: birth prevalence, etiology, and outcome. J Pediatr. 2002; 140: 61-67.
Sucuoglu H, Ornek NI, Caglar C. Arthrogryposis multiplex congenita: multiple congenital joint contractures. Case Rep Med. 2015; 2015: 379730.
Nowlan NC. Biomechanics of foetal movement. Eur Cell Mater. 2015; 29: 1-21.
Artrogriposis. Encontrado en: Online mendelian inheritance in man. [Procurado 28 de abril de 2014]. Available in: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=omim
Bjarne MM. Arthrogryposis multiplex congenita: an update. J Child Orthop. 2015; 9: 425-426.
Otto A. The human monster with inwardly curved extremities. Clin Orthop Relat Res. 1985; 194: 4-5.
Stern WG. Arthrogryposis multiplex congenital. JAMA. 1923; 81: 1507.
Sheldon W. Amyoplasia congenital (Multiple congenital articular rigidity: Arthrogryposis multiplex congenita). Arch Dis Child. 1932; 7 (39): 117-136.
Hall JG. Arthrogryposis multiplex congenital: etiology, genetics, classification, diagnostic, approach and general aspects. J Pediatr Orthop B. 1997; 6 (3): 159-166.
Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. 2009; 91 (Suppl 4): 40-46.
Kalampokas E, Kalampokas T, Sofoudis C, Deligeoroglou E, Botsis D. Diagnosing arthrogryposis multiplex congenita: a review. ISRN Obstet Gynecol. 2012; 2012: 264918.
Dubousset J, Guillaumat M. Long-term outcome for patients with arthrogryposis multiplex congenita. J Child Orthop. 2015; 9: 449-458.
Hall JG. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet. 2014; 57 (8): 464-472.
Avińa FJ, Ornelas SM, Montes GS, Rahmati A. Síndrome de Freeman-Sheldon. Informe de un caso. Rev Med Inst Mex Seguro Soc. 2005; 43 (4): 335-338.
Kuriak A, Tikyica A, Stanojevic M, Miskovic B, Ahmed B, Azumendi G et al. The assessment of fetal neurobehavior by three-dimensional and four-dimensional ultrasound. J Matern Fetal Neonatal Med. 2008; 21 (10): 675-684.