Unveiling Cleidocranial Dysplasia: An Antenatal Journey Through Ultrasound and Delivering the Importance of Taking Phenotype History; “Echoes of the Past”

Cleidocranial dysplasia (CCD) is an inherited condition predominantly affecting the clavicles and cranial structures. Advancements in prenatal imaging offer the potential for early detection. A 30-year-old pregnant woman came in for a review of 2nd trimester anomaly scan. The ultrasound suggested a diagnosis of non-lethal skeletal dysplasia. Both parents were called in for counseling. The father was observed to have facial dysmorphism. An X-ray examination clinched the final diagnosis of cleidocranial dysplasia, which was confirmed through whole exome sequencing. This case report highlights the antenatal detection of cleidocranial dysplasia and emphasizes the crucial role of taking family history in a suspected case of skeletal dysplasia.