ArticleAnnals of rehabilitation medicine2018
Cervical Spine Malformations Associated With a 5q34-5q35.2 Micro-interstitial Deletion: A Case Report.
Article in Annals of rehabilitation medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 authors at 1 institution in 1 country.
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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.
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