CC BY 4.0 · Journal of Child Science 2020; 10(01): e21-e24
DOI: 10.1055/s-0040-1709717
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Further Observations in Cerebro-Costo-Mandibular Syndrome: Exploration with CT Imaging

1  Department of Radiology, Narayana Health, Bengaluru, India
,
Vinay Belval
1  Department of Radiology, Narayana Health, Bengaluru, India
,
Santhosh Kumar
1  Department of Radiology, Narayana Health, Bengaluru, India
,
Onkar Auti
1  Department of Radiology, Narayana Health, Bengaluru, India
› Author Affiliations
Further Information

Publication History

23 November 2019

09 March 2020

Publication Date:
29 April 2020 (online)

  

Abstract

Cerebro-costo-mandibular syndrome (CCMS) is a rare syndrome characterized by posterior rib ossification gaps and orofacial anomalies. Posterior rib ossification gaps are the hallmark of the disease and mimic multiple old rib fractures. The condition is caused by heterogeneous mutation of Small Nuclear Ribonucleoprotein Polypeptides B and B1 (SNRPB) gene on the chromosome 20p13. There is scanty literature regarding the extent of bony changes and the associated pulmonary-airway abnormalities on computed tomography (CT) imaging. In this case report, we presented a detailed CT imaging features of a case of CCMS in a male infant. This report highlighted on the nature of osseous defects, structural changes in the chest wall, airways, lungs, and a wide range of spinal anomalies. Some of our observations regarding the changes in the airway and chest wall are likely to have bearing on evaluating the prognosis and the need for respiratory support.

Conflict of Interest

None.