26 January 2025
: Case report
Neonatal Familiar Cleidocranial Dysplasia: A Case Report
Challenging differential diagnosis, Rare disease
Shimeng Zhao1ADEF*, Tongtong Wang1BDE, Haipeng Yang1BE, Riyan Huang1AEDOI: 10.12659/AJCR.946322
Am J Case Rep 2025; 26:e946322
Figure 1. Newborn infant with cleidocranial dysplasia. (A) CT of the brain with 3D reconstruction (3 days after birth) showing severe defect in the ossification of the calvaria, which caused a greater amplitude of the cranial sutures and of the fontanelles. (B) X-ray confirming the fracture (pseudoarthrosis) of the right clavicle (white arrow). (C) RUNX2 mutations identified in this case of CCD.






