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2019, Número 1

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Acta Pediatr Mex 2019; 40 (1)


Abordaje clínico y diagnóstico de la artrogriposis

Álvarez-Quiroz P, Yokoyama-Rebollar E

Idioma: Español
Referencias bibliográficas: 23
Paginas: 44-50
Archivo PDF: 416.64 Kb.


FRAGMENTO

ANTECEDENTES

El término artrogriposis (arthro = articulación; gryp = curva), también conocido como artrogriposis múltiple congénita o contracturas articulares congénitas múltiples, lo describió por primera vez (1841) Otto, como una miodistrofia. Se caracteriza por contracturas articulares congénitas, no progresivas y simétricas que afectan, al menos, dos áreas diferentes del cuerpo humano. La artrogriposis múltiple congénita es una enfermedad heterogénea y se han descrito cientos de padecimientos que la asocian, al menos, con 105 defectos genéticos. La expresión “artrogriposis” se utiliza más como un signo clínico, que como un diagnóstico.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B. 1997; 6:159e166.

  2. Hall J, Kiefer J. Arthrogryposis as a Syndrome: Gene Ontology Analysis; Molecular Syndromology. 2016; 7:101-9.

  3. Barnett CP, Todd EJ, Ong R, et al. Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. Am J Med Genet. 2014;164A(7):1846-9.

  4. Hall JG. Arthrogryposis (multiple congenital contractures). In: Emery and Rimoin’s Principal and Practice of Medical Genetics. https://doi.org/10.1016/j.ejmg.2014.03.008

  5. Hoff JM, Loane M, et al. Arthrogryposis multiplexa congenital: an epidemiologic study of nearly 9 million births in 24 EUROCAT registers. Eur J Obstet Gynecol Reprod Biol. 2011; 159:347-50.

  6. Cassidy SB, Allanson JE. Arthrogryposis; Management of Genetics Syndromes. In: Management of Genetic Syndromes, 3rd ed. Wiley-Blackwell; 2010, 81-96.

  7. Wallach E, Walther-Louvier U, Espil-Taris C, Rivier F, et al. Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Archives de Pédiatrie. 2018;25:322-26.

  8. Sucuoglu H, Ornek NI, Caglar C. Arthrogryposis Multiplex Congenital Joint Contractures; Case Report in Medicine. doi: 10.4172/2167-0987.1000249

  9. Ma L, Yu X. Arthrogryposis multiplex congénita: classification, diagnosis, perioperative care, and anesthesia. Front Med. 2017;11 (1): 48-52.

  10. Hall JG. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet. 2014;57(8):464-72.

  11. Hall JG, Reed SD, Greene G. The distal arthrogryposes: delineation of new entities, review and nosologic discussion. AmJ Med Genet.1982;11:185-239.

  12. Kimber E. Amyoplasia and distal arthrogryposis. Journal of Children Orthopedics 2015; 9:427-32.

  13. Bamshad M, Jorde LB, Carey JC. A revised and extended classification of the distal arthrogryposes. Am J Med Genet 1996; 65: 277-81.

  14. Haliloglu G, Toplaoglu H. Arthrogryposis and fetal hypomobility syndrome. Handbook of Clinical Neurology. 2013;113:2-1987.

  15. Amick L, Warren J, Smith HL. Electromyographic and Histopathologic Correlations in Arthrogryposis. Arch Neurol. 1967; 16:512-23.

  16. Bamshad M, Anne EHV. Arthrogryposis: A review and update. The Journal Bone Joint Surgical American. 2009; 91:40-6 (S4).

  17. Kang PB, Lidov HGW, William DS, et al. Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita. Ann Neurol 2003; 54:790-95.

  18. Dieterich K, Quijano-Roy S, Monnier N, et al. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. Human Molecular Genetics. 2013;22(8):1483-92.

  19. Dhaubhadel S, Chapagain RH, Baniya B, Joshi H, Paudel KP. Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures. J Nepal Paediatr Soc 2017;37(3):276-79.

  20. Mohammed MI, Mujammel H, Zahoor HD, et al. Larsen syndrome. A Journal of Bangabandhu Sheikh Mujib Medical University, 2016; 9:123-25.

  21. Mundios S, Horn D. Multiple Pterygium Syndrome, Escobar Variant. In: Limb Malformations. Berlin: Springer, 2014;267. https://doi.org/10.1007/978-3-540-95928-1_60

  22. Garavelli L, Donadio A, Banchini G, Magnani C, et al. Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling. Genet Couns. 2000;11(2):111-18.

  23. Rink B. Arthrogryposis: A review and Approach to prenatal Diagnosis. Obstetrical and Gynecological Survey 2011; 66(6): 369-77.




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