Ontology highlight
ABSTRACT:
SUBMITTER: Lee H
PROVIDER: S-EPMC6325309 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Annals of rehabilitation medicine 20181228 6
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 ...[more]