Achondroplasia?
summary
Achondroplasia is a disease related to chromosome heredity, which is also a disease leading to neonatal death. It endangers the life safety of newborns and makes their families suffer a lot. However, it is strange that most of the parents of patients develop normally. Now let's talk about the symptoms of achondroplasia.
Achondroplasia?
Achondroplasia is also known as fetal chondrodystrophy, chondrodystrophic dwarfism and so on. It is a kind of congenital dysplasia due to the defect of endochondral ossification, which mainly affects the long bone. The clinical manifestation is a special type of dwarf short limb dwarf. Mental and physical development is good.
The clinical manifestation is that the trunk and limbs are out of proportion, the head is large and the limbs are short, and the trunk length is normal. For example, the femur is shorter than the tibia and fibula, and the humerus is shorter than the ulna and radius. The facial features were nasal bridge collapse, mandibular protrusion and wide forehead. The middle finger and ring finger can not be closed together, which is called Trident hand. There may be elbow flexion contracture and dislocation of the radial head. The lower limbs are short and curved in an arch shape, and the muscles are especially bloated. The length of spine is normal, but the deformity of thoracic kyphosis can be found in infancy. Foramen magnum stenosis in infancy is also common in children, the main symptoms are lumbocrural pain and intermittent claudication. Intelligence is generally unaffected.
Because most of the cases are caused by completely unpredictable genetic mutations in unaffected parents. Genetic counseling can help sick adults to have selective fertility. Early diagnosis and early treatment is the key to the prevention and treatment of this disease. If the baby does not die, it can be competent for all kinds of work and has a good prognosis.
matters needing attention
Because most of the cases are caused by completely unpredictable genetic mutations in unaffected parents. Genetic counseling can help sick adults to have selective fertility. Early diagnosis and early treatment is the key to the prevention and treatment of this disease. If the baby does not die, it can be competent for all kinds of work and has a good prognosis.
