At what age does deformity begin in osteogenesis imperfecta?

May 10, 2023 Source: Cainiu Health

Dr. Lin Yunfei

Introduction

The age at which skeletal deformities begin in osteogenesis imperfecta varies from person to person and depends on the severity and progression rate of the disease. In mild cases, osteogenesis imperfecta may not cause any symptoms. Once symptoms appear, even minor injuries can lead to fractures and subsequent malunion. When the condition occurs in infants and young children, it may result in enlarged fontanelles or pigeon chest. As the individual ages, it can lead to spinal scoliosis, flattened pelvis, and short stature.

The age at which osteogenesis imperfecta begins to cause deformities varies from person to person and is related to the severity and progression rate of the disease. Symptoms typically appear between the ages of 2 and 40, during which time deformities may develop. Specific details are as follows:

When osteogenesis imperfecta is mild, it usually does not cause obvious symptoms. Once symptoms occur, they lead to increased bone fragility, resulting in fractures even after minor injuries. These fractures often manifest as spontaneous or recurrent multiple fractures, which may heal improperly and lead to limb deformities such as bending or angulation. Additionally, when the condition occurs in infants and young children, it may cause enlarged fontanelles, delayed closure of the fontanelles, or conditions such as pectus carinatum (pigeon chest), short stature, and developmental delays. As the individual ages, the frequency of fractures may gradually decrease, but complications such as scoliosis, flattened pelvis, and short stature may still develop.

After diagnosis, active treatment under the guidance of a qualified physician is necessary to minimize the adverse effects of the disease.

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Why does hip dysplasia occur?

Abnormal or incomplete hip joint development during the embryonic period, along with quadriceps and gluteal muscle weakness, may lead to developmental dysplasia of the hip. During adolescence, growth plates and ligaments, as well as other soft tissues, have not fully matured; external injuries can damage the hip's growth plates and soft tissues, thereby affecting normal hip joint development. In patients with osteogenesis imperfecta, the hip joints are prone to fractures, deformities, and defects, ultimately resulting in hip dysplasia.

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What causes brittle bones?

Brittle bones may be caused by prolonged bed rest, nutritional deficiencies, osteoporosis, osteogenesis imperfecta, fluorosis, or other reasons. If a patient remains bedridden for a long time, the lower limbs may not receive sufficient external mechanical stimulation, leading to increased bone resorption and reduced bone formation. When the patient suddenly starts bearing weight upon standing or walking, excessive loading may result in pathological fractures of the lower limbs.