IS case 496: Cleidocranial dysostosis

David Tuttle, MD

University of Rochester

Imaging Sciences URMC 2010
Publication Date: 2010-08-30

History

Patient is a 34-year-old female with cough.

Findings

See images

Diagnosis

Cleidocranial dysostosis

Discussion

Cleidocranial dysostosis is an autosomal dominant hereditary congenital disorder. It is characterized by incomplete ossification of the clavicles, which may be absent or more often hypoplastic. Additional features include abnormal development of the pubic bones, vertebral column, and long bones. Cranial features include frontal bossing, hypertelorism, and supernumerary teeth.

References

1. Jeung MY, Gangi A, Gasser B, et al. Imaging of chest wall disorders. Radiographics. 1999 May-Jun;19(3):617-37. PMID: 10336192