Our goal is to correlate the findings on flexion and extension radiographs with dynamic magnetic resonance imaging (MRI), and the clinical history, in a nonrandomly selected cohort of patients with 22q11.2 deletion syndrome (22q).
All patients with the 22q who had a dynamic MRI from January 2004 to March 2015 were included. We analyzed multiple radiographic measurements on both the dynamic plain films and the MRIs, and correlated these findings with a review of each patient’s medical record.
Multiple congenital anomalies were identified as noted in previous studies, and 61% of the patients had a failure of fusion of the anterior (n=2, 9%), posterior (n=2, 9%), or anterior and posterior arches (n=10, 43%). Quantitative measurements were impossible to report with certainty because of the upper cervical anomalies, and no cases of instability were identified using a qualitative assessment. We identified spinal cord encroachment (30%) and impingement (18%); however, none of the patients had any signal change in their spinal cord. None of these findings could be definitively correlated with any clinical symptoms. A single patient was diagnosed with a Chiari I malformation, while another had cerebellar ectopia.
Although the upper cervical anomalies are extremely common in 22q, we did not identify cases of instability on dynamic plain radiographs and MRI. Although our findings do not support routine screening with flexion and extension MRI, this study may be required in patients with neurological symptoms and/or findings or abnormalities on dynamic plain radiographs.
*Mount Sinai Beth Hospital, New York, NY
†Drexel University College of Medicine
§The Children’s Hospital of Philadelphia, Philadelphia, PA
‡Monroe Carell Jr. Children’s Hospital, Nashville, TN
∥University Medical Center Utrecht, Utrecht, The Netherlands
S.E.K.: assisted with the research design, reviewed all the images and the clinical records, analyzed the data with the assistance of K.B., and wrote the initial draft of the manuscript. S.Y.O.: reviewed all of the images and contributed to the initial draft of the manuscript and the revisions. A.B.: reviewed all of the imaging findings, participated in data analysis, and reviewed the manuscript. D.C.: participated in the research design, reviewed all of the images, and provided critical review of the manuscript. The focus of his PhD in the Netherlands is the orthopaedic manifestations of 22Q deletion syndrome. D.A.S.: came up with the research question and helped to design the study, reviewed all of the imaging findings, and worked on the initial draft of the paper and the revisions. T.F. and K.B.: assisted with designing the research protocol, reviewed the images, and reviewed the manuscript. K.B.: did the statistical analysis. D.M.-M.: came up with the research question and study design, and provided critical review of the findings and of the manuscript.
None of the authors have received financial support for this study.
Research performed at The Children’s Hospital of Philadelphia (CHOP).
There was no outside funding for this study.
D.S. received royalties from Springer for coediting a textbook on Global Surgery. The remaining authors declare no conflicts of interest.
Reprints: David A. Spiegel, MD, Division of Orthopaedic Surgery, The Children’s Hospital of Philadelphia, 2nd Floor Wood Building, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104. E-mail: email@example.com.