What is a feature of cleidocranial dysplasia associated with the CBFA1 gene mutation?

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Cleidocranial dysplasia, which is caused by mutations in the CBFA1 gene (also known as RUNX2), is characterized by a variety of skeletal and dental anomalies. One of the hallmark features of this condition is frontal bossing, which refers to the outward protrusion of the forehead. This occurs due to the developmental abnormalities in the skull and facial bones that are associated with cleidocranial dysplasia.

Frontal bossing results from the failure of normal bone development and fusion of cranial sutures, leading to a characteristic appearance of the skull. Individuals with this condition often have a broad, prominent forehead combined with a narrow face, which contributes to the distinct facial features observed in these patients.

Other features of cleidocranial dysplasia do exist, such as delayed eruption of teeth and potential skeletal abnormalities, but the prominent forehead is particularly noticeable and is a defining aspect of the diagnosis. This is why frontal bossing is the correct answer, as it highlights a key physical manifestation of the disorder related to the genetic mutation involved.

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