Multi-detector thoracic CT findings in cerebro-costo-mandibular syndrome: rib gaps and failure of costo-vertebral separation

Skeletal Radiol. 2014 Feb;43(2):263-6. doi: 10.1007/s00256-013-1732-2. Epub 2013 Oct 8.

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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Cognition Disorders / diagnosis*
  • Diagnosis, Differential
  • Female
  • Humans
  • Micrognathism / diagnostic imaging*
  • Multidetector Computed Tomography / methods*
  • Radiography, Thoracic / methods*
  • Ribs / abnormalities*
  • Ribs / diagnostic imaging*
  • Syndrome
  • Thoracic Vertebrae / abnormalities
  • Thoracic Vertebrae / diagnostic imaging