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ISRN Obstetrics and Gynecology
Volume 2012 (2012), Article ID 264918, 6 pages
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.
- B. D. Rink, “Arthrogryposis: a review and approach to prenatal diagnosis,” Obstetrical & Gynecological Survey, vol. 66, no. 6, pp. 369–377, 2011.
- 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.
- 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.
- 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.
- 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.
- 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.
- N. Gordon, “Arthrogryposis multiplex congenita,” Brain and Development, vol. 20, no. 7, pp. 507–511, 1998.
- J. G. Hall, “Genetic aspects of arthrogryposis,” Clinical Orthopaedics and Related Research, vol. 194, pp. 44–53, 1985.
- 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.
- O. Laitinen and M. Hirvensalo, “Arthrogryposis multiplex congenita,” Annales Paediatriae Fenniae, vol. 12, no. 2, pp. 133–138, 1966.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- G. Hageman and J. Willemse, “Arthrogryposis multiplex congenita. Review with comment,” Neuropediatrics, vol. 14, no. 1, pp. 6–11, 1983.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- P. Dalton, L. Clover, R. Wallerstein et al., “Fetal arthrogryposis and maternal serum antibodies,” Neuromuscular Disorders, vol. 16, no. 8, pp. 481–491, 2006.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- S. Martin and J. D. Tobias, “Perioperative care of the child with arthrogryposis,” Paediatric Anaesthesia, vol. 16, no. 1, pp. 31–37, 2006.
- 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.
- 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.
- 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.
- 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.
- 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.
- E. Hammond and A. E. Donnenfeld, “Fetal akinesia,” Obstetrical and Gynecological Survey, vol. 50, no. 3, pp. 240–249, 1995.
- 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.
- 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.
- 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.
- 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.
- J. G. Hall, “Analysis of Pena Shokeir phenotype,” American Journal of Medical Genetics, vol. 25, no. 1, pp. 99–117, 1986.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.