Krish 5 Year old boy brought  to the hospital by his mother because she has noticed that her child did not have appropriate height for his age and having Mild limb deformity.This child has a previous Hx  of  Right tibial fracture  when the child was 3years old.What is the most likely Diagnosis?

ANSWER -Type III Osteogenesis imperfecta

Osteogenesis imperfecta also  known as Brittle Bone Disease or Lobstein syndrome
It is a group of diseases where there is an increased fragility of bone with frequent fractures.
They are all associated with type I collagen mutations.
It is a genetic disorder with autosomal dominant inheritance
Mainly there are four subtypes of Osteogenesis imperfecta

Type I mild disease(Collagen is of normal quality but is produced in insufficient quantities)
  1.      Blue sclerae
  2.      Slight protrusion of the eyes
  3.      Mild prepubertal bone fragility
  4.      Little or no deformity or Slight spinal curvature
  5.      Loose joints
  6.      Mild short stature
  7.      Poor muscle tone
  8.      Hearing loss in about 50% of adults
  9.      Bruises easily
  10.      Dentinogenesis imperfecta may be absentin 1A and present in 1B

Type II perinatal lethal(Collagen is not of a sufficient quality or quantity)
  1.      Most cases die within the first year of life due to respiratory failure or intracerebral hemorrhage
  2.      blue sclerae
  3.      In utero fractures
  4.      Micromelia
  5.      Marked long bone deformity
  6.      Platyspondyly
  7.      Lethal in the perinatal period
  8.      Broad but poorly mineralized skull

Type III progressive deforming(Collagen quantity is sufficient but is not of a high enough quality)
  1.     Blue then white sclerae
  2.     Progressing deforming of the long bones and spine secondary to fractures and gravity
  3.     Relative macrocephaly and triangular faces
  4.     Extremely short stature and barrel-shaped rib cage
  5.     Respiratory problems
  6.     Poor muscle tone and Loose joints

IV moderately severe disease(Collagen quantity is sufficient but is not of a high enough quality)
  1.      White sclerae
  2.      Moderate fragility and mild to moderate bowing of long bones especially before puberty
  3.      Variable short stature
  4.      Dentinogenesis imperfecta absent in IVA and  present in IVB

Diagnosis of osteogenesis imperfecta is made on the basis of clinical features
Severe variants may be diagnosed by ultrasound prenatally
this should be confirmed radiographically at 20 weeks gestation

Physiotherapy, rehabilitation, and orthopedic surgery are the mainstays of treatment



  1. Anonymous Says:
  2. I think it is osteogenesis imperfecta..
    He has blue sclerae and fractures...

  3. Anonymous Says:
  4. osteogenesis imperfecta..............

  5. Anonymous Says:
  6. osteogenesi imperfecta

  7. Rangi7 Says:
  8. Osteogenesis Imperfecta
    fragile bones bluish sclera Deafness appear in later can menifest at birth in congenital verity or in later life tarda veriety .its a metabolic disorder of collagen and its derivatives.affect scleera,bones,and ligaments.Autosomal dominent inheritence


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