Patient's question:
The child next door has often been showing strange expressions on his face recently, and he has a large head with a small face. My friend was very puzzled. His parents told my friend that he had gone to a hospital in the county a few days ago for a check-up, and the doctor said he had a condition called cleidocranial dysplasia.Doctor's answer:
Osteogenesis Imperfecta is a congenital developmental deformity of the skeletal system, often a hereditary developmental disorder. The causative gene has been confirmed as "RUNX2 locus" on chromosome 6p21, which is a mutation in the gene controlling the specific transcription factor of osteoblasts. The scope of the condition includes slow ossification of the skull, extremely slow closing of the sutures, which may gradually ossify only by the age of 4 and may not be fully completed even in adulthood. It is essential to avoid head injuries that could lead to bruising or compression.