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>Journals >Acta Pediátrica de México >Year 2019, Issue 1


Álvarez-Quiroz P, Yokoyama-Rebollar E
Arthrogryposis: Clinical and diagnostic approach
Acta Pediatr Mex 2019; 40 (1)

Language: Español
References: 23
Page: 44-50
PDF: 416.64 Kb.


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REFERENCIAS

  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.






>Journals >Acta Pediátrica de México >Year 2019, Issue 1
 

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