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

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 t...

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Bibliographic Details
Published in:Skeletal radiology 2014-02, Vol.43 (2), p.263-266
Main Authors: Watson, Tom Anthony, Arthurs, Owen John, Muthialu, Nagarajan, Calder, Alistair Duncan
Format: Article
Language:English
Subjects:
Case Report
Child, Preschool
Children's hospitals
Cognition Disorders - diagnosis
CT imaging
Detectors
Diagnosis, Differential
Embryonic development
Female
Humans
Imaging
Medicine
Medicine & Public Health
Micrognathism - diagnostic imaging
Multidetector Computed Tomography - methods
Nuclear Medicine
Orthopedics
Pathology
Radiography, Thoracic - methods
Radiology
Ribs - abnormalities
Ribs - diagnostic imaging
Syndrome
Thoracic Vertebrae - abnormalities
Thoracic Vertebrae - diagnostic imaging
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Description
Summary: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.
ISSN:0364-2348
1432-2161
DOI:10.1007/s00256-013-1732-2