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.
References
Smith DW, Theiler K, Schachenmann G. Rib gap defect with micrognathia, malformed tracheal cartilages and redundant skin: a new pattern of defective development. J Pediatr. 1966;69:799–803.
Oestreich AE, Stanek JW. Preautopsy imaging in cerebro-costo-mandibular syndrome. Pediatr Radiol. 2010;40:s50.
Flodmark P, Wattsgard C. Cerebro-costo-mandibular syndrome. Pediatr Radiol. 2011;31:36–7.
Abdalla W, Panigrahy A, Bartoletti SC. Cerebro-costo-mandibular syndrome: Report of two cases. Radiology Case Reports. 2011;6(3):495.
Plötz FB, van Essen AJ, Bosschaart AN, Bos AP. Cerebro-costo-mandibular syndrome. Am J Med Genet. 1996;62:286–92.
Wilcox BK, Tatum SA. Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence. Am J Otolaryngol. 2004;25:258–62.
Nagasawa H, Yamamoto Y, Kohno Y. Cerebro-costo-mandibular syndrome: prognosis and proposal for classification. Congenit Anom (Kyoto). 2010;50:171–4.
Williams HJ, Sane SM. Cerebro-costo-mandibular syndrome: Long-term follow-up of a patient and review of the literature. Am J Roentgenol. 1976;126:1223–8.
Morin G, Gekas J, Naepels P, Gondry J, Devauchelle B, Testelin S, et al. Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission. Prenat Diagn. 2001;21:890–3.
Kirk EPE, Arbuckle S, Ramm PL, Ades LC. Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: Cerebro-costo-mandibular syndrome or a new syndrome? Am J Med Genet. 1999;84:120–4.
Leitges M, Neidhardt L, Haenig B, Herrmann BG, Kispert A. The paired homeobox gene Uncx4.1 specifies pedicles, transverse processes and proximal ribs of the vertebral column. Development. 2000;127:2259–67.
Pen-Hua S, Jia-Yuh C, Chin-Lung C, Yan-Yan N, Suh-Jen C. Exclusion of MYF5, GSC, RUNX2 and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome. Clin Dysmorphol. 2010;19:51–5.
Conflicts of interest
The authors declare that they have no conflict of interest.
Author information
Authors and Affiliations
Corresponding author
Electronic supplementary material
Below is the link to the electronic supplementary material.
ESM 1
(JPEG 31 kb)
Rights and permissions
About this article
Cite this article
Watson, T.A., Arthurs, O.J., Muthialu, N. et al. Multi-detector thoracic CT findings in cerebro-costo-mandibular syndrome: rib gaps and failure of costo-vertebral separation. Skeletal Radiol 43, 263–266 (2014). https://doi.org/10.1007/s00256-013-1732-2
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00256-013-1732-2