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- Title
Multi-detector thoracic CT findings in cerebro-costo-mandibular syndrome: rib gaps and failure of costo-vertebral separation.
- Authors
Watson, Tom; Arthurs, Owen; Muthialu, Nagarajan; Calder, Alistair
- Abstract
Cerebro-costo-mandibular syndrome (CCMS) describes a triad of mandibular hypoplasia, brain dysfunction and posterior rib defects ('rib gaps'). We present the CT imaging for a 2-year-old girl with CCMS that highlights the rib gap defects and shows absent transverse processes with abnormal fusion of the ribs directly to the vertebral bodies. We argue that this is likely to relate to abnormal lateral sclerotome development in embryology, with the failure of normal costo-vertebral junctions compounding impaired thoracic function. The case also highlights the use of CT for specific indications in skeletal dysplasia.
- Subjects
RIB abnormalities; MANDIBULAR joint diseases; SKELETAL dysplasia; BONE diseases
- Publication
Skeletal Radiology, 2014, Vol 43, Issue 2, p263
- ISSN
0364-2348
- Publication type
Article
- DOI
10.1007/s00256-013-1732-2