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ISRN Obstetrics and Gynecology
Volume 2012 (2012), Article ID 264918, 6 pages
http://dx.doi.org/10.5402/2012/264918
Review Article

Diagnosing Arthrogryposis Multiplex Congenita: A Review

Second Department of Obstetrics and Gynecology, Aretaieion University Hospital, University of Athens, 76 Vas. Sofias Avenue, 11528 Athens, Greece

Received 5 August 2012; Accepted 26 August 2012

Academic Editors: K. Chan, N. A. Ginsberg, and M. Khandelwal

Copyright © 2012 Emmanouil Kalampokas et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. B. D. Rink, “Arthrogryposis: a review and approach to prenatal diagnosis,” Obstetrical & Gynecological Survey, vol. 66, no. 6, pp. 369–377, 2011. View at Publisher · View at Google Scholar
  2. O. B. Navti, E. Kinning, P. Vasudevan et al., “Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population,” Prenatal Diagnosis, vol. 30, no. 1, pp. 49–56, 2010. View at Publisher · View at Google Scholar · View at Scopus
  3. I. Witters, P. Moerman, and J. P. Fryns, “Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses,” American Journal of Medical Genetics, vol. 113, no. 1, pp. 23–28, 2002. View at Publisher · View at Google Scholar · View at Scopus
  4. J. G. Hall, “Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects,” Journal of Pediatric Orthopaedics Part B, vol. 6, no. 3, pp. 159–166, 1997. View at Scopus
  5. A. Polizzi, S. M. Huson, and A. Vincent, “Teratogen update: maternal myasthenia gravis as a cause of congenital arthrogryposis,” Teratology, vol. 62, no. 5, pp. 332–341, 2000. View at Scopus
  6. P. R. J. Barnes, D. J. Kanabar, L. Brueton et al., “Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother,” Neuromuscular Disorders, vol. 5, no. 1, pp. 59–65, 1995. View at Publisher · View at Google Scholar · View at Scopus
  7. N. Gordon, “Arthrogryposis multiplex congenita,” Brain and Development, vol. 20, no. 7, pp. 507–511, 1998. View at Publisher · View at Google Scholar · View at Scopus
  8. J. G. Hall, “Genetic aspects of arthrogryposis,” Clinical Orthopaedics and Related Research, vol. 194, pp. 44–53, 1985. View at Scopus
  9. N. Darin, E. Kimber, A. K. Kroksmark, and M. Tulinius, “Multiple congenital contractures: birth prevalence, etiology, and outcome,” Journal of Pediatrics, vol. 140, no. 1, pp. 61–67, 2002. View at Publisher · View at Google Scholar · View at Scopus
  10. O. Laitinen and M. Hirvensalo, “Arthrogryposis multiplex congenita,” Annales Paediatriae Fenniae, vol. 12, no. 2, pp. 133–138, 1966. View at Scopus
  11. W. P. Bevan, J. G. Hall, M. Bamshad, L. T. Staheli, K. M. Jaffe, and K. Song, “Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective,” Journal of Pediatric Orthopaedics, vol. 27, no. 5, pp. 594–600, 2007. View at Publisher · View at Google Scholar · View at Scopus
  12. E. Brodtkorb, T. Torbergsen, K. O. Nakken, K. Andersen, R. Gimse, and O. Sjaastad, “Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome?” Acta Neurologica Scandinavica, vol. 90, no. 4, pp. 232–240, 1994. View at Scopus
  13. K. Vuopala, J. Leisti, and R. Herva, “Lethal arthrogryposis in Finland—a clinico-pathological study of 83 cases during thirteen years,” Neuropediatrics, vol. 25, no. 6, pp. 308–315, 1994. View at Scopus
  14. E. Fedrizzi, G. Botteon, M. Inverno, E. Ciceri, L. D'Incerti, and F. Dworzak, “Neurogenic arthrogryposis multiplex congenita: clinical and MRI findings,” Pediatric Neurology, vol. 9, no. 5, pp. 343–348, 1993. View at Publisher · View at Google Scholar · View at Scopus
  15. P. Moerman and P. G. Barth, “Olivo-ponto-cerebellar atrophy with muscular atrophy, joint contractures and pulmonary hypoplasia of prenatal onset,” Virchows Archiv, vol. 410, no. 4, pp. 339–345, 1987. View at Scopus
  16. Y. Fukuyama, M. Osawa, and H. Suzuki, “Congenital progressive muscular dystrophy of the Fukuyama type-clinical, genetic and pathological considerations,” Brain and Development, vol. 3, no. 1, pp. 1–29, 1981. View at Scopus
  17. G. Hageman and J. Willemse, “Arthrogryposis multiplex congenita. Review with comment,” Neuropediatrics, vol. 14, no. 1, pp. 6–11, 1983. View at Scopus
  18. V. Laugel, C. Dalloz, E. S. Tobias et al., “Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation,” Journal of Medical Genetics, vol. 45, no. 9, pp. 564–571, 2008. View at Publisher · View at Google Scholar · View at Scopus
  19. P. M. Bingham, N. Shen, H. Rennert et al., “Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMN(T) gene,” Neurology, vol. 49, no. 3, pp. 848–851, 1997. View at Scopus
  20. G. M. Yuill and P. G. Lynch, “Congenital non progressive peripheral neuropathy with arthrogryposis multiplex,” Journal of Neurology Neurosurgery and Psychiatry, vol. 37, no. 3, pp. 316–323, 1974. View at Scopus
  21. K. B. Boylan, D. M. Ferriero, C. M. Greco, R. A. Sheldon, and M. Dew, “Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita,” Annals of Neurology, vol. 31, no. 3, pp. 337–340, 1992. View at Scopus
  22. L. Charnas, B. Trapp, and J. Griffin, “Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita,” Neurology, vol. 38, no. 6, pp. 966–974, 1988. View at Scopus
  23. J. Reimann, L. Jacobson, A. Vincent, and C. Kornblum, “Endplate destruction due to maternal antibodies in arthrogryposis multiplex congenita,” Neurology, vol. 73, no. 21, pp. 1806–1808, 2009. View at Publisher · View at Google Scholar · View at Scopus
  24. P. Dalton, L. Clover, R. Wallerstein et al., “Fetal arthrogryposis and maternal serum antibodies,” Neuromuscular Disorders, vol. 16, no. 8, pp. 481–491, 2006. View at Publisher · View at Google Scholar · View at Scopus
  25. A. Vincent, L. Jacobson, P. Plested et al., “Antibodies affecting ion channel function in acquired neuromyotonia, in seropositive and seronegative myasthenia gravis, and in antibody-mediated arthrogryposis multiplex congenita,” Annals of the New York Academy of Sciences, vol. 841, pp. 482–496, 1998. View at Publisher · View at Google Scholar · View at Scopus
  26. J. Vajsar, A. Sloane, D. L. MacGregor, G. M. Ronen, L. E. Becker, and V. Jay, “Arthrogryposis multiplex congenita due to congenital myasthenic syndrome,” Pediatric Neurology, vol. 12, no. 3, pp. 237–241, 1995. View at Publisher · View at Google Scholar · View at Scopus
  27. J. T. Chieza, I. Fleming, N. Parry, and V. A. Skelton, “Maternal myasthenia gravis complicated by fetal arthrogryposis multiplex congenita,” International Journal of Obstetric Anesthesia, vol. 20, no. 1, pp. 79–82, 2011. View at Publisher · View at Google Scholar · View at Scopus
  28. J. M. Hoff, A. K. Daltveit, and N. E. Gilhus, “Artrogryposis multiplex congenita—a rare fetal condition caused by maternal myasthenia gravis,” Acta Neurologica Scandinavica, vol. 113, supplement 183, pp. 26–27, 2006. View at Publisher · View at Google Scholar · View at Scopus
  29. B. H. F. Sombekke, W. M. Molenaar, A. J. Van Essen, and C. J. F. Schoots, “Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: three new cases and review of the literature,” Pediatric Pathology, vol. 14, no. 2, pp. 277–285, 1994. View at Scopus
  30. M. Z. Seidahmed, Y. Sunada, C. O. Ozo, F. Hamid, K. R. Campbell, and M. A. M. Salih, “Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome?” Neuropediatrics, vol. 27, no. 6, pp. 305–310, 1996. View at Publisher · View at Google Scholar · View at Scopus
  31. E. Kimber, H. Tajsharghi, A. K. Kroksmark, A. Oldfors, and M. Tulinius, “A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis,” Neurology, vol. 67, no. 4, pp. 597–601, 2006. View at Publisher · View at Google Scholar · View at Scopus
  32. K. N. North and A. H. Beggs, “Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy,” Neuromuscular Disorders, vol. 6, no. 4, pp. 229–235, 1996. View at Publisher · View at Google Scholar · View at Scopus
  33. E. McPherson and C. Zabel, “Mitochondrial mutation in a child with distal arthrogryposis,” American Journal of Medical Genetics, vol. 140, no. 2, pp. 184–185, 2006. View at Publisher · View at Google Scholar · View at Scopus
  34. B. Laubscher, R. C. Janzer, S. Krähenbühl, L. Hirt, and T. Deonna, “Ragged-red fibers and complex I deficiency in a neonate with arthrogryposis congenita,” Pediatric Neurology, vol. 17, no. 3, pp. 249–251, 1997. View at Publisher · View at Google Scholar · View at Scopus
  35. H. Nogami, N. Ogasawara, and T. Kasai, “Lipid storage myopathy associated with scoliosis and multiple joint contractures,” Acta Neuropathologica, vol. 61, no. 3-4, pp. 305–310, 1983. View at Scopus
  36. F. Bonilla-Musoles, L. E. Machado, and N. G. Osborne, “Multiple congenital contractures (congenital multiple arthrogryposis),” Journal of Perinatal Medicine, vol. 30, no. 1, pp. 99–104, 2002. View at Publisher · View at Google Scholar · View at Scopus
  37. C. A. Swinyard and E. E. Bleck, “The etiology of arthrogryposis (multiple congenital contracture),” Clinical Orthopaedics and Related Research, vol. 194, pp. 15–29, 1985. View at Scopus
  38. S. Y. Parashar, P. J. Anderson, N. McLean, M. Djohansjah, and D. J. David, “Spectrum of features in pterygium syndrome,” Asian Journal of Surgery, vol. 29, no. 2, pp. 104–108, 2006. View at Scopus
  39. M. Bamshad, L. B. Jorde, and J. C. Carey, “A revised and extended classification of the distal arthrogryposes,” American Journal of Medical Genetics, vol. 65, no. 4, pp. 277–281, 1996. View at Publisher · View at Google Scholar
  40. S. Martin and J. D. Tobias, “Perioperative care of the child with arthrogryposis,” Paediatric Anaesthesia, vol. 16, no. 1, pp. 31–37, 2006. View at Publisher · View at Google Scholar · View at Scopus
  41. J. G. Hall, “Arthrogryposis associated with unsuccessful attempts at termination of pregnancy,” American Journal of Medical Genetics, vol. 63, no. 1, pp. 293–300, 1996. View at Publisher · View at Google Scholar
  42. H. Scott, A. Hunter, and B. Bedard, “Non-lethal arthrogryposis multiplex congenita presenting with cystic hygroma at 13 weeks gestational age,” Prenatal Diagnosis, vol. 19, no. 10, pp. 966–971, 1999. View at Publisher · View at Google Scholar
  43. D. Goksen, S. Darcan, M. Coker et al., “Permanent neonatal diabetes with arthrogryposis multiplex congenita and neurogenic bladder-a new syndrome?” Pediatric Diabetes, vol. 7, no. 5, pp. 279–283, 2006. View at Publisher · View at Google Scholar · View at Scopus
  44. I. R. Livingstone and G. H. Sack Jr, “Arthrogryposis multiplex congenita occurring with maternal multiple sclerosis,” Archives of Neurology, vol. 41, no. 11, pp. 1216–1217, 1984. View at Scopus
  45. H. J. Porter, “Lethal arthrogryposis multiplex congenita (fetal akinesia deformation sequence, fads),” Pediatric Pathology and Laboratory Medicine, vol. 15, no. 4, pp. 617–637, 1995. View at Scopus
  46. E. Hammond and A. E. Donnenfeld, “Fetal akinesia,” Obstetrical and Gynecological Survey, vol. 50, no. 3, pp. 240–249, 1995. View at Publisher · View at Google Scholar · View at Scopus
  47. K. E. Coelho, M. F. Sarmento, C. M. Veiga, et al., “Misoprostol embryotoxicity: clinical evaluation of fifteen patients with arthrogryposis,” American Journal of Medical Genetics, vol. 95, no. 4, pp. 297–301, 2000. View at Publisher · View at Google Scholar
  48. M. Bamshad, A. E. Van Heest, and D. Pleasure, “Arthrogryposis: a review and update,” Journal of Bone and Joint Surgery A, vol. 91, supplement 4, pp. 40–46, 2009. View at Publisher · View at Google Scholar · View at Scopus
  49. J. Hyett, P. Noble, N. J. Sebire, R. Snijders, and K. H. Nicolaides, “Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation,” Ultrasound in Obstetrics and Gynecology, vol. 9, no. 5, pp. 310–313, 1997. View at Publisher · View at Google Scholar · View at Scopus
  50. R. Madazli, B. Tüysüz, F. Aksoy, M. Barbaros, S. Uludaǧ, and V. Ocak, “Prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology,” Fetal Diagnosis and Therapy, vol. 17, no. 1, pp. 29–33, 2002. View at Publisher · View at Google Scholar · View at Scopus
  51. J. G. Hall, “Analysis of Pena Shokeir phenotype,” American Journal of Medical Genetics, vol. 25, no. 1, pp. 99–117, 1986. View at Scopus
  52. C. M. Quinn, J. S. Wigglesworth, and J. Heckmatt, “Lethal arthrogryposis multiplex congenita: a pathological study of 21 cases,” Histopathology, vol. 19, no. 2, pp. 155–162, 1991. View at Scopus
  53. B. Sheizaf, M. Mazor, D. Landau, E. Burstein, A. Bashiri, and R. Hershkovitz, “Early sonographic prenatal diagnosis of seizures,” Ultrasound in Obstetrics and Gynecology, vol. 30, no. 7, pp. 1007–1009, 2007. View at Publisher · View at Google Scholar · View at Scopus
  54. H. Chen, W. R. Blackburn, and W. Wertelecki, “Fetal akinesia and multiple perinatal fractures,” American Journal of Medical Genetics, vol. 55, no. 4, pp. 472–477, 1995. View at Publisher · View at Google Scholar · View at Scopus
  55. A. Kurjak, N. Vecek, T. Hafner, T. Bozek, B. Funduk-Kurjak, and B. Ujevic, “Prenatal diagnosis: what does four-dimensional ultrasound add?” Journal of Perinatal Medicine, vol. 30, no. 1, pp. 57–62, 2002. View at Publisher · View at Google Scholar · View at Scopus
  56. B. Steinberg, V. S. Nelson, S. E. Feinberg, and C. Calhoun, “Incidence of maxillofacial involvement in arthrogryposis multiplex congenita,” Journal of Oral and Maxillofacial Surgery, vol. 54, no. 8, pp. 956–959, 1996. View at Publisher · View at Google Scholar · View at Scopus
  57. J. G. Brooks Jr and D. J. Coster, “Arthrogryposis multiplex congenita: a report of two cases,” Australian and New Zealand Journal of Ophthalmology, vol. 22, no. 2, pp. 127–132, 1994. View at Scopus
  58. J. Philpot, S. Counsell, G. Bydder, C. A. Sewry, V. Dubowitz, and F. Muntoni, “Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?” Neuromuscular Disorders, vol. 11, no. 5, pp. 489–493, 2001. View at Publisher · View at Google Scholar · View at Scopus
  59. E. U. Senocak, K. K. Oguz, G. Haliloglu, D. Karcaaltincaba, D. Akata, and O. Kandemir, “Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging,” Pediatric Radiology, vol. 39, no. 4, pp. 377–380, 2009. View at Publisher · View at Google Scholar · View at Scopus
  60. B. J. Baty, D. Cubberley, C. Morris, and J. Carey, “Prenatal diagnosis of distal arthrogryposis,” American Journal of Medical Genetics, vol. 29, no. 3, pp. 501–510, 1988. View at Scopus
  61. R. Herva, J. Leisti, P. Kirkinen, and U. Seppanen, “A lethal autosomal recessive syndrome of multiple congenital contractures,” American Journal of Medical Genetics, vol. 20, no. 3, pp. 431–439, 1985. View at Scopus
  62. P. A. Boyd, F. Tondi, N. R. Hicks, and P. F. Chamberlain, “Autopsy after termination of pregnancy for fetal anomaly: retrospective cohort study,” British Medical Journal, vol. 328, no. 7432, pp. 137–140, 2004. View at Scopus