Presentation
This patient complains of an abnormally soft head, abnormal facial features, and slow growth.
Patient Data
The brain CT scan study shows frontal bossing, shallow orbits, wide cranial sutures, and a large midline defect of the frontal bones with a hypoplastic calvarium. The sagittal images of the skull show basilar invagination. There is also bilateral occipitoparietal cortical encephalomalacia and sclerosis of the mastoid air cells.
The frontal radiograph of the shoulders shows hypoplastic clavicles, mainly the outer parts, with drooping of the shoulders and a narrow chest.
The coronal images of the pelvis show dysplastic femoral necks and coxa vara bilaterally.
Case Discussion
Cleidocranial dysplasia is a rare genetic disorder that affects the development of bones and is characterized by specific skeletal abnormalities including underdeveloped or absent clavicles, delayed closure of skull sutures and abnormal dental development. Persons with this disease usually have a characteristic facial appearance with a prominent forehead, short stature, dental abnormalities and abnormalities of the spine, pelvis and hands.
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