Osteogenesis Imperfecta

Osteogenesis Imperfecta

What is Osteogenesis Imperfecta?

osteogenesis imperfecta type v

Synonyms of Osteogenesis Imperfecta

  • Brittle Bone Disease
  • Fragilitas Ossium
  • Osteopsathyrosis
  • Lobstein’s Disease

Introduction

Osteogenesis Imperfecta is a heterogenous group of disorder with Autosomal Dominant Inheritance Pattern

Etiology of Osteogenesis Imperfecta

etiology of osteogenesis imperfecta

Classification of Osteogenesis Imperfecta

Given by Sillence

Type 1

  • Most common and mildest
  • 10% Prenatal Fracture
  • Blue sclera, Hearing loss
  • Fragile bone, Kyphoscoliosis
  • Sometimes opalscent dentin

Type 2

  • Most severe
  • Extreme bone fragility and fracture
  • 90% Prenatal fracture

Type 3

  • 50% Prenatal fracture
  • All features of type1 except no hearing loss
  • With Opaescent dentin

Type 4

It has 2 subtypes

  • Opalescent dentin is absent
  • Opalescent dentin is present

Clinical Feature of Osteogenesis Imperfecta

  1. Age of onset - Stillborn
  2. Site - Collagenous body part (ex.Bone, Sclera, Fascia, Tendon, Dentin, Skin Fragile and Porous bone) which are more prone to fracture
  3. Fracture heals by Callus formation
  4. Sclera - Pale blue, thin, pigmented choroid giving blue hue
  5. Hearing loss (Hypoacusis) due to compression of auditory nerve by Osteosclerosis
  6. Hypermobility of Joints due to laxity of ligaments
  7. Bleeding capillaries rare
blue sclerae of patient with osteogenesis

Oral Manifestation of Osteogenesis Imperfecta

  1. Abnormal mesodermal calcified tissue
  2. Frontal and Temporal bossing
  3. Abnormal Dentin formation
  4. Tendency of Class 3 malocclusion, Anterior/Posterior Crossbite and Openbite due to Maxillary hypoplasia
  5. Impaction and Ectopic teeth eruption

Radiographic Feature of Osteogenesis Imperfecta

  1. Bowing / Angulate / Deformed fractured bones
  2. Wormian bone in Skull (multiple small sutural bones fail to fuse)
  3. Mixed bony lesions on OPG
  4. Premature pulp obliteration on IOPA

Histopathologic Feature of Osteogenesis Imperfecta

  1. Retarded or abnormal osteoblatic activity
  2. Abnormal Collagen synthesis in organic matrix
  3. Thin cortex
  4. Immature spongy bone
  5. Delicate trabeculae of cancellous bone with microfractures
  6. Defective microvascular system

Treatment of Osteogenesis Imperfecta

  1. Preventive measures
    • Prenatal Ultrasonography
    • Chorion Villus Prenatal Biopsy
  2. Genetic counselling