A 6 year old boy is brought to pediatric OPD by his mother. She complains that the child keeps suffering from fractures after minor trauma. Multiple such episodes have been repoed. She also complains that child faces problem in hearing and often misses on her instructions. Examination revealed the following finding: With lower limb deformity. His x-ray of lower limb is done which is shown as follows: Which of the given option defect is responsible for above clinical scenario?
Clinical signs and symptoms, with blue sclera and x ray of lower limb showing bowing, softening s/o multiple fractures raises the p/o osteogenesis imperfecta. Bones brittle blue sclera dental abnormalities progressive hearing loss positive family history. mutations in one of the two genes coding for Type I collagen. Skeletal Effects In Type I OI the fragility of bones: severe or mild Skull Radiograph: show a mottled appearance due to irregular ossification. In Type II OI Ossification: frequently incomplete. beaded or broken ribs crumpled long bones (accordina femora) In Types III and IV multiple fractures with severe deformities. Kyphoscoliosis "popcorn-like" deposits in x-rays of long bones. Progressive neurologic symptoms due to - basilar compression - communicating hydrocephalus. Ocular Features The sclerae can be: normal, gray, slightly bluish bright blue. Dentinogenesis The teeth may be: Normal moderately discolored grossly abnormal. teeth may be amber yellowish brown translucent bluish gray color (deficiency of dentin- rich in Type I collagen) Hearing Loss Conductive Sensorineural Mixed varies in severity. Other Features Thin skin scars extensively joint laxity permanent dislocations Molecular Defects COL1A1 COL1A2 genes coding for proa1 or proa2 chain of Type I procollagen Diagnosis : clinical criteria. The presence of fractures together with blue sclera dentinogenesis imperfect family history of the disease Management: Osteogenesis Imperfecta decreasing the incidence of bone fractures bone pain restrictions on mobility. Physical therapy Occupational therapy Diet: adequate intake of calcium and vitamin D Ohopedic procedures : for deformities of Long bone scoliosis
Collagen 1
Collagen 2
Fibrillin
Collagen 4
Integrated QBank