What Are the Symptoms of Osteogenesis Imperfecta?

Osteogenesis imperfecta, also known as osteogenesis imperfecta, brittle bone disease, congenital hypoplasia, porcelain doll, primary osteoporosis, periosteal dysplasia. Children are prone to fractures, and minor collisions can also cause severe fractures. It is a rare hereditary bone disease with an incidence rate of about 3 in 100,000. The proportion of men and women is about the same.

Basic Information

nickname

Brittle bone disease

English name

osteogenesisimperfecta

English alias

Fragililisossium; idiopathicosteopsathyrosis; periostealdysplasia

Visiting department

orthopedics

Common locations

Bone, often involving other connective tissue

Common symptoms

Multiple fractures

Contagious

no

Causes of osteogenesis imperfecta

The etiology is unknown and there is a family genetic history. It is a congenital genetic disease. It can be divided into 4-11 types according to genetic mutations, but it is controversial. The lesions are mainly insufficient collagen fibers, abnormal structures, and systemic connective tissue diseases. The lesions are not limited to bones, but often involve other connective tissues such as eyes, ears, skin, and teeth. Currently, Sillence (1979) is used to type the disease from a genetic perspective:

Typing	Heredity	Biochemical	Prognosis	sclera
First type	Autosomal dominant inheritance	Type collagen deficiency	light	Blue sclera
Type II	Autosomal dominant inheritance	Structural abnormalities of type collagen	fatal	Blue sclera
Third type	Autosomal stealth	Structural abnormalities of type collagen	serious	Blue sclera
Type IV	Autosomal stealth	The alpha bond of the precursor of collagen fibers is too short	light	normal

Clinical manifestations of osteogenesis imperfecta

Those who are mild can be asymptomatic, have normal height, usually have a limited life span, and only have mild fractures. The severe are disabled or even die. The common symptoms are increased bone fragility, minor injuries can cause fractures, often manifested as spontaneous fractures, or repeated multiple fractures. Most of the fractures are green branches, with less displacement, less pain, and faster healing. They rely on subperiosteal osteogenesis to complete the healing of deformities. The limbs are often bent or angled. After puberty, the number of fractures gradually decreases. May have scoliosis, flat pelvis, or short stature. The blue sclera and sclera become thinner and the transparency increases. Progressive deafness is caused by sclerosing of the ossicle, impaired sound conduction, or some people think that it is caused by the compression of the auditory nerve when it comes out of the skull base. Tooth dysplasia, grayish yellow, incisor thinning, incision margin defect, joint slackness, malformation of tendon and ligament collagen tissue development may be deformed, and joint instability. Weak muscles and widened skin scars due to defective collagen tissue. Intellectual reproduction is accessible.

Osteopathy

The X-ray performance of patients with different osteogenesis imperfecta varies greatly, depending on the type of osteogenesis imperfecta. It is usually characterized by long and slender bones, making the bones that make up the joint relatively thick, sparse trabeculae, curved bones, thin convex cortex, relatively thick concave side, relatively large medullary cavity, and cystic changes. It is common to have multiple old or fresh fracture lines. Delayed calcification of the skull, thinning of the cranial plate, multiple suture bones, enlarged frontal and mastoid sinuses, two temporal protrusions, large and small on the head surface, can be inverted triangles, wide front chimney, and late closure. The vertebral body is flattened, double-concave, thin cortex, osteoporosis, and may have scoliosis or posterior process. There are also multiple fractures of the ribs. The pelvis is triangular and the pelvis becomes smaller.

Prenatal diagnosis relies on ultrasound examination of the fetal skeletal system to find a small number of bone development disorders. At present, the diagnosis of collagen and genetic analysis is not reliable, and sometimes there is an increase in blood alkaline phosphatase, which may be due to increased osteoblast activity after trauma and fracture.

Osteogenesis imperfecta treatment

No special treatment. The main purpose is to prevent fractures, and to strictly protect the children until the trend of fractures is reduced, but to prevent complications from long-term bed rest. The treatment of fractures is the same as that of normal people. Because the fracture heals quickly, the fixation period can be short. Serious deformity can take measures to correct the deformity and improve the negative gravity line.

Drug treatments include bisphosphonates, estrogen, calcitonin, and vitamin D3, but the efficacy is uncertain. Stem cell therapy and gene therapy methods need further research and identification, and they cannot be applied to the clinic in a short time.

Prognosis of osteogenesis imperfecta

Different types of osteogenesis imperfecta differ in severity and prognosis. Severe cases die in the womb or within 1 week after delivery.

Osteogenesis imperfecta prevention

This disease is a congenital hereditary disease. Fractures should be prevented. Protective measures should be taken to prevent injuries to the child. Training flexibility, endurance and strength, and encourage various forms of safe and active exercise to the maximum extent possible. Increase bone mass, strengthen muscle strength, promote independent living functions, and even be competent for some work until the fractures are reduced. At the same time, we must pay attention to prevent long-term bed complications, care for children, wear braces to protect and prevent limb bending. deformity.

If the spouse has a family history of the disease, even if there is no symptoms, you should consult an expert when giving birth, and you should consider the possibility of having offspring with osteogenesis imperfecta.