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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

Abstract

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.

Keywords

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

Notes

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.

Funding

None.

Compliance with ethical standards

Conflict of interest

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

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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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