Patient's question:
A friend of my friend's child has been crying constantly recently. My friends thought he might have a serious illness and took him to a hospital in the county for a check-up. The attending doctor said he was suffering from a symptom of incomplete development of auricular cartilage. Do you have any pictures of incomplete cartilage development in children?Doctor's answer:
(1) EtiologyCongenital hypochondroplasia (also known as chondrodysplasia) is an autosomal dominant genetic disorder. Most affected individuals exhibit new gene mutations. Only a small number of cases are familial chondrodysplasia. The older the mother, the higher the incidence of the disease in her child. Male patients have a 50% chance of inheriting the condition according to Mendelian inheritance, and it can even be passed down for six generations. Females rarely inherit the disease. All affected children have no endocrine disorders.
(2) Pathogenesis
The impaired ossification of cartilage is due to a defect in the protoplasm of the primitive genes. Approximately 80% of cases occur in families where both parents and siblings are normal, likely caused by a dominant gene mutation.