Cleidocranial dysostosis, a rare autosomal dominant disorder classified under osteochondrodysplasias, exhibits a prevalence of 1 in 1,000,000. This syndrome arises from haploinsufficiency in the RUNX2 gene, initially documented in 1765 and formally characterized in 1871. Recognizing its clinical and radiological features promptly is crucial for optimal management. This article presents a literature review and a case report of a pediatric patient diagnosed with cleidocranial dysostosis.
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Romero et al. (2024) studied this question.
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