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

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

Ann Rehabil Med. 2018 Dec;42(6):884-887

Authors: Lee H, Kim JS, Lim SH, Sul B, Hong BY

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.

PMID: 30613082 [PubMed]

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