Ann Rehabil Med.  2018 Dec;42(6):884-887. 10.5535/arm.2018.42.6.884.

Cervical Spine Malformations Associated With a 5q34-5q35.2 Micro-interstitial Deletion: A Case Report

• Lee H
• Kim JS
• Lim SH
• Sul B
• Hong BY

• KMID: 2448910
• DOI: http://doi.org/10.5535/arm.2018.42.6.884

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.

Keyword

Chromosome deletion; Spine; Abnormalities

MeSH Terms

Chromosome Deletion
Congenital Abnormalities
Female
Genotype
Head
Humans
Joints
Phenotype
Spine*

Figure

• 

  Fig. 1. Cervical plain radiographs showed abnormal tubular structures in posterior C5 and abnormal articulations of C3–C5.

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  Fig. 2. Whole-spine plain radiographs showed left convex thoracolumbar scoliosis with a Cobb angle of 23°.

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  Fig. 3. Three-dimensional computed tomography (3D-CT) of cervical spine. (A) 3D-CT showed multiple bony anomalies of the cervical spine, and asymmetrically minimal hypoplastic right articular processes and facet joints of C5. (B) Bone defect involving both lamina of C5, agenesis of the right articular process of C5 with bony fusion of C4–C5 was noted (arrow). (C) A focal bone defect involving the right transverse foramen of C2 triggered inferior bony protrusion of the right transverse process and right foramina stenosis at C2–C3 (arrow).

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