Annals of Rehabilitation Medicine

Korean Academy of Rehabilitation Medicine (대한재활의학회)
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Cervical Spine Malformations Associated With a 5q34-5q35.2 Micro-interstitial Deletion: A Case Report

  • Lee, Heewon (Department of Rehabilitation Medicine, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Kim, Joon Sung (Department of Rehabilitation Medicine, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Lim, Seong Hoon (Department of Rehabilitation Medicine, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Sul, Bomi (Department of Rehabilitation Medicine, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Hong, Bo Young (Department of Rehabilitation Medicine, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea)
  • Received : 2018.04.01
  • Accepted : 2018.06.12
  • Published : 2018.12.31
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Abstract

We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. The patient presented with a persistent head tilt and limited head rotation. Non-contrast-enhanced three-dimensional computed tomography of the cervical spine revealed several malformations including a bone cleft in the right pars interarticularis, a bone defect in both C5 lamina and the transverse foramen at C2-C3, agenesis of the right articular process of C5, bony fusion of C4-C5, and subluxation of the craniocervical joints. Several deformities of the cervical spine seen in this patient have not been associated with the 5q deletion. A review of 5q-related mutations suggests that abnormalities associated with MSX2 gene might cause cervical spine abnormalities.

Keywords

References

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