Musculoskeletal ImagingCleidocranial dysplasia
an autosomal dominant disorder with numerous clinical findings, including mild shortening of stature, large brachycephalic head, small face, and high, arched palate with delayed eruption of supernumerary teeth. In addition, the patient may have genu valgum and short fingers.
Radiographic features reveal poorly ossified skull, widening of the sutures and multiple wormian bones. In some patients the foramen magnum is deformed, and basilar impression is often evident. Absence of the clavicle (partial or total) may be observed (Fig.1). Other findings include hypoplastic scapula, bell-shaped thorax and pelvic changes (delayed ossification of the pubic bones, a wide symphysis pubis and narrow iliac wings). Coxa valga or coxa vara deformity may also develop, and in some cases spina bifida occulta is present. The hands and wrists also may be involved.
DR/RB
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a. Frontal radiograph demonstrates partial absence of the clavicles bilaterally. Note the incomplete ossification in the posterior elements in the upper thoracic vertebrae.
b. AP radiograph of the pelvis demonstrates widening of the symphysis pubis, dysplastic iliac wings, and coxa vara.
(Courtesy of Robert Sweet, MD, Pomona, CA)
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Cleidocranial dysplasia, Fig.1 (a) | | Cleidocranial dysplasia, Fig.1 (b) | |