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Cleidocranial dysostosis is an autosomal dominant disorder with marked variation in genetic expression. One-third of cases are due to fresh mutations. Newborns typically present with respiratory distress due to thoracic cage deformities and possess numerous skeletal deformities as seen in these films. In addition to the more common findings already discussed, these patients typically possess an abnormal gait, mild shortness of stature, deafness, fragile bones, and cleft palate. Click here to go to the next case
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