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  1. It is a genetic disorder of connective tissue determined by quantitative and/or qualitative defect in type I collagen formation. So there is alteration in the structural integrity, or a reduction in the total amount of type I collagen, one of the major components of fibrillar connective tissue in skin, ligaments bones, sclera, and teeth.
  2. It is inherited from a parent in autosomal dominant (AD) fashion, may occur as spontaneous mutation, or, rarely as autosomal recessive (AR) trait from both parents.
  3. The defining clinical features are
  1. Bone & Joint Involvement
    1. Osteopenia causing repeated propensity to fracture, generally after minor trauma and often with out much pain or swelling.
    2. Any fracture pattern may be seen, and no particular fracture pattern is specifically diagnostic.
    3. Fractures heal at a normal rate.
    4. Fracture callus is typically whispy but on rare occasions it may be very large and hyperplastic, resembling osteogenic sarcoma on radiographs.
    5. According to the severity of disease fractures nay occur in uterus, at birth, or after birth prior to or after walking age.
    6. Recurrent fractures are discovered during infancy and throughout childhood, combination of disuse osteopenia, progressive long bone deformity & joint stiffness from immobilzation.
    7. Frequency of fractures decline sharply after adolescence or puberty, although it may rise again in postmenopausal (climacteric) women.
    8. New bone is pliable for long time due to defective osteoid formation, thus leading to, malunion and severe deformities. eg acetabular protrusion (otto pelvis), helmet head, kyphoscoliosis, bowing etc.
    9. Hyper laxity of ligaments, with resultant hypermobility of joint is common.
    10. Rarely recurrent dislocation of patella, radial head and hip joint dislocation and DDH can occur.
Radiological Feature
  1. Popcorn calcification & whorls of raiodensities
  2. Skull has a mushroom appearance with a very thin calvarium
  3. Wormian bones, are detached portions of primary ossification centers of adjacent membrane bones. These are seen in skull x-ray. To be significant, it should be more than 10 in number, measure at least 6 mm × 4mm, & be arranged in general mosaic pattern.
  4. Wormian bones are present in osteogenesis imperfecta, other bone dysplasias such as cleidocranial dysplasia, congenital hypothyroidism, pachydermoperiostosis, Menke’s syndrome & some trisomies.
  1. Ocular Involvement
    1. Blue or grey sclerae, is due to uveal pigment showing through thin collagen layer.
    2. Saturn’s ring white sclera immediately surrounding the cornea.
    3. Arcus juvenilis or embryotoxon opacity in periphery of cornea.
    4. Hyperopia & retinal detachment may occur.
  2. Auditory Involvement
    1. Deafness, usually setting in adolescence or adulthood may be either of the conductive type, otosclerosis or of nerve type, caused by pressure on the auditory nerve as it emerges from the skull.
  3. Dentinogenes Imperfecta/Crumbling Teeth
    1. The enamel is essentially normal, as it is of ectodermal origin, not mesenchymal. Dentine is affected.
    2. The lower incisors, which errupt first are more severely affected.
  4. Skin & Muscle Involvement
    1. Skin is thin & translucent. Subcuteneous haemorrhages may occur.
    2. Muscles are hypotonic.
    3. Hernias may occur
  5. Metabolic Features
    1. Excessive sweating, heat intolerance is seen because of hypermetabolic state.
    2. Susceptible to malignant hyperthermia during general anesthesia.
Diagnosis of Osteogenesis Imperfecta
  1. A molecular defect in type I procollagen can be detected in 2/3 of patients by incubating skin fibroblasts with radioactive amino acids & then analyzing the pro a chains by polyacrylamide gel electrophoresis.
  2. Prenatal USG shows multiple fractures.
Treatment is Bisphosphonates and best treatment is gene therapy.

Blue Sclera seen in type I and Type II Multiple fracture

Sabre tibia (Also seen in syphilis and Pagets disease)
Sofield Miller Osteotomy (Sheek Kabab)

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