AN 8-YEAR-OLD girl was referred for evaluation of short stature (99 cm, less than the third percentile for age). Her birth and medical histories were unremarkable. The family history was negative for short stature or bone disorders. In addition to the features noted in the photographs (Figure 1 and Figure 2), the physical examination revealed a narrow, high-arched palate, delayed eruption of permanent teeth, dental caries, and a nonpalpable right clavicle. Radiographic studies of the chest and skull are shown in Figure 3 and Figure 4.
Denouement and Discussion
Cleidocranial dysplasia is an uncommon generalized skeletal disorder whose name designates the involvement of the cranial vault and clavicles, its most striking features. As more thorough investigation and examination of cases occurred, systemic dysplasia of skeletal and dental tissues became apparent. There is variability in the clinical appearance of affected individuals. The head appears large and round, with frontal,