Embryo with Arthrogrypos: a rare case report

Document Type : Case report


1 Assistant Professor, Department of Midwifery, Faculty of Medicine, Gonabad University of Medical Sciences, Gonabad, Iran.

2 B.Sc. in Midwifery, Faculty of Medicine, Gonabad University of Medical Sciences, Gonabad, Iran.


Introduction: Arthrography is a rare congenital disorder which is identified with joint involvement, muscle weakness and fibrosis and sometimes is accompanied with a series of cholestasis renal tubes abnormalities and bone disorder. Arthrography has no definite treatment, but rehabilitation for improvement of organs' function is possible. In this study, a case of male embryo with Arthrography and decision for abortion in 21st weeks of pregnancy is reported.
Case presentation: The patient was a 34-year-old woman with fourth pregnancy, second parity and history of spontaneous abortion. The screening tests were normal embryo in the first and second stages, but regarding the findings of one-way hydronephrosis, one-way coronary cyst, two-way fierce club in the examination of fetal organs, relative reduction in fetal movements and bilateral articulation, amniocentesis was performed and arthrography was detected. The mother was hospitalized at gestational age of 21 weeks and 4 days and underwent abortion. After receiving misoprostol and oxytocin, she was unresponsive and hysterotomy was performed and the placenta and embryo were removed.
Conclusion: Arthrography is a congenital disorder that due to the occurrence of abnormalities and problems, early and timely diagnosis before delivery should be considered. This syndrome is detectable by ultrasound and therefore, it is recommended that screening and imaging measures, and prenatal care be performed more sensitively especially in high risk pregnant women.


  1. Cevei M, Stoicanescu D. Arthrogryposis-case report. Anal Univ Orandea Fascicula Biol 2008; 4:24-6.‏
  2. Elmeery A, Lanka K, Cummings J. ARC syndrome in preterm baby. J Perinatol 2013; 33(10):821.
  3. Shafik MH, Mohamed MT, Al-Harbash N. Arthrogryposis, renal tubular dysfunction and cholestasis (ARC) syndrome: a case report. Kuwait Med J 2010; 42(3):230-3.
  4. Conkar S, Yılmaz E, Mir S, Berdeli A. Novel VPS33B mutations of G514S gene cause an arthrogryposis, renal dysfunction and cholestasis syndrome. Int J Case Rep Imag 2016; 7(4):216-20. ‏
  5. Dehghani SM, Bahador A, Nikeghbalian S, Salahi H, Geramizadeh B, Malekpour A, et al. Liver transplant in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome with severe intractable pruritus. Exp Clin Transplant 2013; 11(3):290-2.
  6. Wang JS, Zhao J, Li LT. ARC syndrome with high GGT cholestasis caused by VPS33B mutations. World J Gastroenterol 2014; 20(16):4830.
  7. ‏‏Saadah OI, Bokhari BE, Alshaeri TM, Jastaniah W. Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report. Arab J Gastroenterol 2013; 14(1):26-8.
  8. Basiratnia M, Saki F. Congenital limb anomaly as a new presentation of arthrogryposis-renal problems-cholestasis (ARC) syndrome in an Iranian infant: a case report. Galen Med J 2015; 4(3):117-21.
  9. Velmishi V, Dervishi E, Bali D, Shehu A, Cullufi P. Constipation as an atypical sign of ARC syndrome-case report. Curr Health Sci J 2016; 42(2):203.‏
  10. Bildirici K, Ak¼it A. Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings. Turkish J Pediatr 2005; 47:67-70. ‏
  11. Ikezumi Y, Kabuki N, Hayakawa H, Matsui T, Gunji T, Uchiyama M. Two patients with arthrogryposis–renal tubular dysfunction–cholestasis syndrome in a Japanese family. Pediatr Int 2006; 48(4):416-9.
  12. Malaki M, Mandana R, Ghaffari S. ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus. Saudi J Kidney Dis Transplant 2012; 23(4):804.
  13. Alsaad KM, Alautaish HH, Alamery MA. Congenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus in newborn calves of Basrah Governorate, Iraq. Veter World 2017; 10(9):1143. ‏
  14. Oberoi GS, Kaul HL, Gill IS, Batra RK. Anaesthesia in arthrogryposis multiplex congenita: case report. Can J Anaesth 1987; 34(3):288-90. ‏
  15. Nili F, Akbari-Asbaghe P, Oloomi-Yazdi Z, Hadjizadeh N, Nayeri F, Amini E, et al. Wide spectrum of clinical features in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome. Arch Iran Med 2008; 11(5):569-72. ‏
  16. Horslen SP, Quarrell OW, Tanner MS. Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. J Med Genet 1994; 31(1):62-4.
  17. Di Rocco M, Callea F, Pollice B, Faraci M, Campiani F, Borrone C. Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families. Eur J Pediatr 1995; 154(10):835-9.