Patient's question:
Next door, Duo Duo is only 1 year old this year and was found to have cleidocranial dysplasia. Curious to ask, how is this disease caused? Is it just a congenital malformation. I wonder what cleidocranial dysplasia is?Doctor's answer:
Osteogenesis Imperfecta is a congenital developmental deformity of the skeletal system, often a familial genetic 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 impact includes delayed ossification of the skull, extremely slow closure of the sutures, which may gradually ossify only by the age of 4 and may not be fully completed even in adulthood. It is important to avoid head injuries that could cause bruising or compression at any time, as poor chest development is more prone to cause respiratory problems. In cases of clavicular hypoplasia, it is necessary to avoid lifting heavy objects. Medical and surgical treatments are adopted, with continuous evaluation of the conditions caused by delayed craniofacial development.