We performed posterior fusion and instrumentation due to progressive scoliosis in two adolescent female patients diagnosed with cleidocranial dysostosis following genetic screening.
In the first case (28-year-old female), the patient had the typical phenotypic characteristics of cleidocranial dysostosis (short stature, open anterior fontanelle, typical facial appearance, a wide and protruding forehead, and dental problems), bilateral pseudoarthrosis of the clavicle, slightly widened pubic symphysis, small iliac wings, bilateral shortness of the femoral neck and coxa vara, bilateral genu valgum in the lower extremity, progressive scoliosis, and a positive family history (in her father and grandmother) at presentation.
Case 1 Presentation with cleidocranial dysostosis, bilateral pseudoarthrosis of the clavicle, slightly widened pubic symphosis, small iliac wings, bilateral shortness of the femoral neck and coxa vara, bilateral genu valgum in the lower extremity, progressive scoliosis, and a positive family history.
Patients with cleidocranial dysostosis are short, the mean height in adult males is between the 5th and 50th percentile of height for their age, whereas in females dwarfism is more apparent and the mean height is below the 5th percentile of height of their peers [10].
Coxa vara may accompany cleidocranial dysostosis and the femoral neck is significantly short (Figure 8).