Cervical Spine Malformations Associated With a 5q34-5q35.2 Micro-interstitial Deletion: A Case Report.
10.5535/arm.2018.42.6.884
- Author:
Heewon LEE
1
;
Joon Sung KIM
;
Seong Hoon LIM
;
Bomi SUL
;
Bo Young HONG
Author Information
1. Department of Rehabilitation Medicine, St. Vincent’s Hospital, College of Medicine, The Catholic University of Korea, Suwon, Korea. byhong@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
Chromosome deletion;
Spine;
Abnormalities
- MeSH:
Chromosome Deletion;
Congenital Abnormalities;
Female;
Genotype;
Head;
Humans;
Joints;
Phenotype;
Spine*
- From:Annals of Rehabilitation Medicine
2018;42(6):884-887
- CountryRepublic of Korea
- Language:English
-
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.