Skeletal Radiology

, Volume 21, Issue 7, pp 459–462 | Cite as

Spinal abnormalities and the atypical form of the Mayer-Rokitansky-Küster-Hauser syndrome

  • Ernst H. Strübbe
  • J. Albert M. Lemmens
  • Cornelis J. P. Thijn
  • Wim N. P. Willemsen
  • Bert S. J. van Toor


In 96 patients with congenital absence of the uterus and upper vagina, the Mayer-Rokitansky-KüsterHauser (MRKH) syndrome, it proved possible to distinguish between the typical and the atypical form using laparoscopy. The typical form was characterized by symmetrical nonfunctioning muscular buds (the Müllerian duct remnants) and normal fallopian tubes, and the atypical form by aplasia of one or both buds, one bud smaller than the contralateral one, with or without dysplasia of one or both fallopian tubes. The atypical form was found in 52 patients (54.2%). Radiographs of the spine showed that congenital spinal abnormalities, especially the Klippel-Feil (KF) syndrome, were seen in 14 of the 52 patients with the atypical form only. Renal agenesis or ectopia together with the MRKH and KF syndromes, known as the MURCS association (MU: Müllerian duct aplasia; R: renal agenesis/ectopia; CS: cervical somite dysplasia), was diagnosed in 10/52 patients in the atypical group. From our results we conclude that additional cervical spine films in patients with the MRKH syndrome are indicated only in the atypical form the syndrome. In those cases where the MRKH syndrome is associated with the KF syndrome, the MURCS association should be considered.

Key words

Congenital abnormalities, genitourinary system Congenital abnormalities, cervical spine Laparoscopy Radiography 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Baird P, Lowry R (1974) Absent vagina and the Klippel-Feil anomaly. Am J Obstet Gynecol 118:290–291Google Scholar
  2. 2.
    Barach B, Falces E, Benzian S (1987) Magnetic resonance imaging for diagnosis and preoperative planning in agenesis of the distal vagina. Ann Plast Surg 19:192–194Google Scholar
  3. 3.
    Chawla S, Bery K, Indra K (1966) Abnormalities of the urinary tract and skeleton, associated with congenital absence of the vagina. Br Med J 1:1398–1400Google Scholar
  4. 4.
    Chervenak F, Stangel J, Nemec M, Amin H (1982) MayerRokitansky-Küster-Hauser syndrome. NY State J Med 82:23–27Google Scholar
  5. 5.
    Da Silva E (1982) Autosomal recessive Klippel-Feil syndrome. J Med Genet 219:130–134Google Scholar
  6. 6.
    Duncan P (1977) Embryologic pathogenesis of renal agenesiassociated with cervical vertebral anomalies (Klippel-Feil phenotype). Birth Defects 13:91–101Google Scholar
  7. 7.
    Duncan P, Shapiro L, Stangel J, Klein R, Addonizio J (1979) The MURCS-association: Muellerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr 95:399–402Google Scholar
  8. 8.
    Fedele L, Dorta M, Brioschi D et al. (1990) Magnetic resonance imaging in Mayer-Rokitansky-Küster-Hauser syndrome. Obstet Gynecol 76:593–596Google Scholar
  9. 9.
    Ghirardini G, Segre A (1982) Vaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome): recent etiopathogenetical and anatomical views. Clin Exp Obstet Gynecol 9:98–102Google Scholar
  10. 10.
    Gorlin R, Pindborg J, Cohen M (1976) Syndromes of the head and neck. McGraw-Hill, New YorkGoogle Scholar
  11. 11.
    Gray S, Romain C, Skandalakis J (1964) Congenital fusion of cervical vertebrae. Surg Gynecol Obstet 118:373–385Google Scholar
  12. 12.
    Griffin J, Edwards C, Madden J, Harrod M, Wilson J (1976) Congenital absence of the vagina, the Mayer-RokitanskyKüster-Hauser syndrome. Ann Int Med 85:224–236Google Scholar
  13. 13.
    Gunderson C, Greenspan R, Glaser G, Lubs H (1967) The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medecin 46:491–512Google Scholar
  14. 14.
    Heidenreich W (1988) Genitale und extragenitale Fehlbildungen beim Mayer-Rokitansky-Küster-Hauser Syndrom. Dtsch Med Wochenschr 113:1092–1096Google Scholar
  15. 15.
    Muechler E (1975) Muellerian duct agenesis associated with renal and skeletal abnormalities. Am J Obstet Gynecol 121:567–568Google Scholar
  16. 16.
    Murphy A, Krall A, Rock J (1987) Bilateral functioning uterine anlagen with the Mayer-Rokitansky-Küster-Hauser syndrome. Int J Fertil 32:316–319Google Scholar
  17. 17.
    Nussbaum Blask A, Sanders R, Rock J (1991) Obstructed uterovaginal anomalies: demonstration with sonography. II. Teenagers. Radiology 179:84–88Google Scholar
  18. 18.
    Park I, Jones H (1971) A new syndrome in two unrelated females: Klippel-Feil deformity, conuctive deafness and absent vagina. Birth Defects 10:311–317Google Scholar
  19. 19.
    Ramsey J, Bliznak J (1971) Klippel-Feil syndrome with renal agenesis and other anomalies. Am J Roentgenol 113:460–463Google Scholar
  20. 20.
    Rosenberg HK, Sherman NH, Tarry WT, et al. (1986) Mayer-Rokitansky-Küster-Hauser syndrome: US aid to diagnosis. Radiology 161:815–819Google Scholar
  21. 21.
    Schmid-Tannwald I, Hauser G (1977) Deutung der “atypischen” Formen des Mayer-Rokitansky-Küster-Hauser syndrome. Geburtshilfe Frauenheilkd 37:386–392Google Scholar
  22. 22.
    Schmid-Tannwald I, Hauser G (1980) Das Mayer-RokitanskyKüster-Hauser Syndrom. Gynakol Prax 4:263–267Google Scholar
  23. 23.
    Shoul M, Ritvo M (1952) Clinical and roentgenologic manifestations of the Klippel-Feil syndrome (congenital fusion of the cervical vertebrae, brevicollis). Am J Roentgenol 68:269–285Google Scholar
  24. 24.
    Silverman F (1985) Caffey's pediatric X-ray diagnosis, 8th edn. Year Book Medical, Chaicago, p 298Google Scholar
  25. 25.
    Stark E, Borton T (1972) Hearing loss and the Klippel-Feil syndrome. Am J Dis Child 123:233–235Google Scholar
  26. 26.
    Strübbe E, Thijn C, Willemsen W, Lappoehn R (1987) Evaluation of radiographic abnormalities of the hand in patients with the Mayer-Rokitansky-Küster-Hauser syndrome. Skeletal Radiol 16:227–231Google Scholar
  27. 27.
    Strübbe EH, Willemsen WNP, Lemmens JAM, Thijn CJP, Rolland R (1992) Urinary tract anomalies and the atypical form of the Mayer-Rokitansky-Küster-Hauser syndrome, (in press)Google Scholar
  28. 28.
    Togashi K, Nishimura K, Itoh K, Fujisawa I, Nakamo Y et al. (1987) Vaginal agenesis: classification by MR imaging. Radiology 162:675–677Google Scholar
  29. 29.
    Turunen A, Unerus C (1967) Spinal changes in patients with congenital aplasia of the vagina. Acta Obstet Gynecol Scand 46:99–106Google Scholar
  30. 30.
    Willemsen W (1982) Neovagina-plastiek met peritoneum-transpositie. Thesis, NijmegenGoogle Scholar
  31. 31.
    Willemsen W (1982) Combination of the Mayer-RokitanskyKüster-Hauser and Klippel-Feil syndrome. A case report and literature review. Eur J Obstet Gynecol Reprod Biol 13:229–235Google Scholar
  32. 32.
    Willemsen W, Dony J (1988) Een decennium ervaring met de behandeling van hypoen aplasia van de vagina met de neovaginaplastiek volgens Davydov en met de (niet-operatieve) methode van Frank. Ned Tijdschr Geneeskd 132:1199–1202Google Scholar
  33. 33.
    Winer-Muram H, Muram D (1984) The concurrence of facioauriculovertebral spectrum and the Rokitansky syndrome. Am J Obstet Gynecol 149:569–570Google Scholar

Copyright information

© International Skeletal Society 1992

Authors and Affiliations

  • Ernst H. Strübbe
    • 1
  • J. Albert M. Lemmens
    • 2
  • Cornelis J. P. Thijn
    • 3
  • Wim N. P. Willemsen
    • 4
  • Bert S. J. van Toor
    • 5
  1. 1.Deparment of RadiologyRijnstate HospitalArnhemThe Netherlands
  2. 2.Department of RadiologyUniversity Hospital NijmegenThe Netherlands
  3. 3.Department of RadiologyUniversity Hospital GroningenThe Netherlands
  4. 4.Department of Obstetrics and GynecologyUniversity Hospital NijmegenThe Netherlands
  5. 5.Department of SurgeryAcademical Medical Center, University of AmsterdamThe Netherlands

Personalised recommendations