Surgical and Radiologic Anatomy

, Volume 41, Issue 5, pp 601–605 | Cite as

Multiple muscular abnormalities in a fetal cadaver with CHARGE syndrome

  • Orhan BegerEmail author
  • Turan Koç
  • Burhan Beger
  • Hakan Özalp
  • Vural Hamzaoğlu
  • Yusuf Vayisoğlu
  • Derya Ümit Talas
  • Zeliha Kurtoğlu Olgunus
Anatomic Variations


The CHARGE syndrome characterized by coloboma, heart defects, atresia of the choanae, retarded growth, genitourinary hypoplasia, and ear anomalies is one of the rare syndromes. Although certain clinical issues (scapular winging, sloping shoulder, Sprengel’s deformity, kyphosis and scoliosis) which could be related to abnormalities in musculoskeletal structures of the neck and shoulder have been identified in CHARGE syndrome, data on details of muscle anomalies seem to be quite limited in the literature. In this case report, bilateral multiple muscular abnormalities (agenesis of the trapezius, presence of the rhombo-atloid muscle, and presence of the bipartite rhomboid minor with superficial and deep parts) was presented in a fetus cadaver with atypical CHARGE syndrome to attract the attention of clinicians for definitive diagnoses and surgical reconstruction of the shoulders deformity such as scapular winging and Sprengel’s deformity. By considering the previous studies, we propose that the absence of the trapezius, as well as the other muscle abnormalities around the neck and shoulder, should be revised as being a component of CHARGE syndrome.


CHARGE syndrome Rhomboid minor Rhombo-atloid muscle Semicircular canals Trapezius muscle 


Author contributions

OB: Project development, Data collection, Data analysis, Manuscript writing, Manuscript editing. TK: Project development, Data collection, Data analysis, Manuscript writing, Manuscript editing. BB: Project development, Data analysis, Manuscript editing. HÖ: Project development, Data analysis, Manuscript editing. VH: Project development, Data analysis, Manuscript editing. YV: Project development, Data analysis, Manuscript editing. DÜT: Project development, Data collection, Data analysis, Manuscript editing. ZKO: Project development, Data collection, Data analysis, Manuscript editing.



Compliance with ethical standards

Conflict of interest

The authors have no conflict of interest or financial ties to disclose.


  1. 1.
    Allouh M, Mohamed A, Mhanni A (2004) Compete unilateral absence of trapezius muscle. MJM 8:31–33Google Scholar
  2. 2.
    Beger O, Dinç U, Beger B, Uzmansel D, Kurtoğlu Z (2018) Morphometric properties of the levator scapulae, rhomboid major, and rhomboid minor in human fetuses. Surg Radiol Anat 40(4):449–455CrossRefGoogle Scholar
  3. 3.
    Bigliani JU, Compito CA, Duralde XA, Wolfe IN (1996) Transfer of the levator scapulae, rhomboid major, and rhomboid minor for paralysis of the trapezius. J Bone Jt Surg Am 78:1534–1540CrossRefGoogle Scholar
  4. 4.
    Blake KD, Davenport SLH, Hall BD et al (1998) CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 37(3):159–173CrossRefGoogle Scholar
  5. 5.
    Blake KD, Prasad C (2006) CHARGE syndrome. Orphanet J Rare Dis 7(1):34CrossRefGoogle Scholar
  6. 6.
    Hall BD (1979) Choanal atresia and associated multiple anomalies. J Pediatr 95(3):395–398CrossRefGoogle Scholar
  7. 7.
    Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ (1979) Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation: a syndrome. J Pediatr Ophthalmol Strabismus 16(2):122–128Google Scholar
  8. 8.
    Issekutz KA, Smith IM, Prasad C, Graham JM Jr, Blake KD (2005) An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A 133A(3):309–317CrossRefGoogle Scholar
  9. 9.
    O’Grady GL, Ma A, Sival D et al (2016) Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease. Eur J Hum Genet 24(8):1216–1219CrossRefGoogle Scholar
  10. 10.
    Pagon RA, Graham JM Jr, Zonana J, Young SL (1981) Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 99(2):223–227CrossRefGoogle Scholar
  11. 11.
    Patten SA, Jacobs-McDaniels NL, Zaouter C, Drapeau P, Albertson RC, Moldovan F (2012) Role of Chd7 in Zebrafish: a model for CHARGE syndrome. PLoS One 7(2):e31650CrossRefGoogle Scholar
  12. 12.
    Tubbs RS, Shoja MM, Loukas M (2016) Bergman’s comprehensive encyclopedia of human anatomic variation. Wiley-Blackwell, Hoboken, p 279Google Scholar
  13. 13.
    Verloes A (2005) Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A 133A(3):306–308CrossRefGoogle Scholar
  14. 14.
    Vissers LE, van Ravenswaaij CM, Admiraal R et al (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36(9):955–957CrossRefGoogle Scholar
  15. 15.
    Wineland A, Menezes MD, Shimony JS, Shinawi MS, Hullar TE, Hirose K (2017) Prevalence of semicircular canal hypoplasia in patients with CHARGE syndrome: 3C syndrome. JAMA Otolaryngol Head Neck Surg 143(2):168–177CrossRefGoogle Scholar
  16. 16.
    Yiyit N, Işıtmangil T, Oztürker C (2014) The abnormalities of trapezius muscle might be a component of Poland’s syndrome. Med Hypotheses 83(5):533–536CrossRefGoogle Scholar

Copyright information

© Springer-Verlag France SAS, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of AnatomyMersin University Faculty of MedicineMersinTurkey
  2. 2.Department of Pediatric SurgeryVan Yüzüncü Yıl University Faculty of MedicineVanTurkey
  3. 3.Department of NeurosurgeryMersin University Faculty of MedicineMersinTurkey
  4. 4.Department of OtorhinolaryngologyMersin University Faculty of MedicineMersinTurkey

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