Pediatric Radiology

, Volume 40, Supplement 1, pp 50–50

Preautopsy imaging in cerebro-costo-mandibular syndrome

Clinical Image

DOI: 10.1007/s00247-010-1703-x

Cite this article as:
Oestreich, A.E. & Stanek, J.W. Pediatr Radiol (2010) 40(Suppl 1): 50. doi:10.1007/s00247-010-1703-x
The 23-week pregnancy of a gravida 2 para 1 mother was terminated after a prenatal US revealed fetal hydrops and congenital anomalies. Because of external anomalies, preautopsy radiographs were performed (Fig. 1). Pathognomic right rib gaps (arrowheads) (Fig. 1) allowed a diagnosis of cerebro-costo-mandibular syndrome [1], which was immediately discussed with the pathologist, including the likelihood of intracranial abnormality. The autopsy confirmed fibrovascular replacement of portions of the right posterior ribs (Fig. 2), as well as extensive, predominantly perivascular, brain calcifications.
Fig. 1

Preautopsy frontal radiograph

Fig. 2

Photomicrograph of one rib gap, H&E. * = bone; § = intervening fibrous tissue; arrow = periosteum

The preautopsy identification of rib gaps allowed the diagnosis of cerebro-costal-mandibular syndrome, a hereditary condition. This identification helped facilitate the autopsy. Because they are seldom seen, rib gaps could have easily passed unnoticed on a routine autopsy. Bone fails to form, but the pathogenesis is unknown. Moreover, the need for intracranial imaging or an autopsy examination becomes evident [2]. We emphasize the value of preautopsy radiological imaging with immediate interpretation.

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  1. 1.Department of Radiology 5031Cincinnati Children’s Hospital Medical CenterCincinnatiUSA
  2. 2.Department of PathologyCincinnati Children’s Hospital Medical CenterCincinnatiUSA