Arthrogryposis multiplex congenita affecting a monochorionic diamniotic twin pregnancy

  • Rafael Brás Obstetrics and Gynecology Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto
  • Helena Veloso Obstetrics and Gynecology Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto
  • Maria Moleiro Obstetrics and Gynecology Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto
  • Sofia Rodrigues Obstetrics and Gynecology Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto
  • Gonçalo Inocencio Obstetrics and Gynecology Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto
  • Céu Mota Pediatrics and Neonatology Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto
  • Gabriela Soares Medical Genetics Department, Centro Hospitalar Universitário do Porto
  • Maria Céu Rodrigues Obstetrics and Gynecology Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto
  • Jorge Braga Obstetrics and Gynecology Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto
Keywords: Amyoplasia, Arthrogryposis, Monochorionic, Twin

Abstract

Arthrogryposis multiplex congenita is a clinically and etiologically heterogeneous group of diseases characterized by presence of contractures involving at least two different body areas. It is observed in one in every 3000−5000 live births. A case of singleton arthrogryposis in a spontaneous monochorionic diamniotic twin pregnancy is reported. Diagnosis was established after morphological ultrasound. There were no further complications during pregnancy. After cesarean delivery, diagnosis of amyoplasia involving the four limbs was confirmed. Newborn is currently undergoing motor rehabilitation. The higher risk of singleton arthrogryposis in monochorionic twin pregnancies is documented and appears to be related with vascular changes early in the course of pregnancy. In amyoplasia, some degree of disability and dependency is expected, even with postnatal rehabilitation.

Author Biographies

Maria Moleiro, Obstetrics and Gynecology Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto

Department of Obstetrics and Gynecology

Gonçalo Inocencio, Obstetrics and Gynecology Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto

Department of Obstetrics and Gynecology

Gabriela Soares, Medical Genetics Department, Centro Hospitalar Universitário do Porto

Department of Medical Genetics

References

Rink BD. Arthrogryposis: a review and approach to prenatal diagnosis. Obstet Gynecol Survey. 2011;66:369–77

Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach and general aspects. J Pediatr Orthop B. 1997;6:159–66

Hall JG. Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics. 2014;57(8):464–472.

– Filges I, Hall JG. Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis. Prenatal Dianosis 2013;33:61-74

– Hall JG, Aldinger KA, Tanaka KI. Amyoplasia revisited. American Journal of Medical Genetics Part A. 2014;164(3):700–730

- Kowalczyk B, Feluś J. Arthrogryposis: An update on clinical aspects, etiology, and treatment strategies. Archives of Medical Science. 2016;1:10–24.

- Hall JG, Reed SD, McGillivray BC, et. Al. Part II. Amyoplasia: twinning in amyoplasia – a specific type of arthrogryposis with an apparent excesso of discordantly affected identical twins. Am J Med Genet 1983; 15:591-599

Kalampokas E, Kalampokas T, Sofoudis C, Deligeoroglou E, Botsis E. Diagnosing arthrogryposis multiplex congenita: a review. ISRN Obstet Gynecol. 2012;2012:264918

Sells JM, Jaffe KM, Hall JG. Amyoplasia, the most common type of arthrogryposis: the potential for good outcome. Pediatrics. 1996;97:225–31

Hoffer M, Swank S, Eastman F, Clark D, Teitge R. Ambulation in severe arthrogryposis. J Pediatr Orthop. 1983;3:293–7

Fassier A, Wicart P, Dubosset J, Seringe R. Arthrogryposis multiplex congenita. Long term follow up study from birth until skeletal maturity. J Child Orthop. 2009;3:383–90

Published
2019-01-02
Section
Case Reports