OSTEOGENESIS IMPERFECTA

Brittle bone disease

Abnormal synthesis and structural defect of type 1 collagen
Commonest genetic disorder
Abnormalities of bones, teeth, ligaments, sclera, and skin
Can be autosomal dominance, autosomal recessive and X-linked.

Clinical features
➢ Prone to fracture – after minor trauma (occur frequently)
➢ Blue sclera – thinning of the sclera > allow underlying choroid to pass
through.

➢ Dentinogenesis imperfecta – brown teeth, abnormal crown

➢ Short stature – bony deformity following healing of repeated fracture.
➢ Hearing loss (adult) – deformity of the ossicle > cannot conduct sound
effectively.

➢ Hypermobile joint
➢ Skin laxity
Investigation
➢ X-ray > fracture, osteopenia
➢ Bone densitometry > to investigate bone density
➢ Serum calcium – normal
➢ Molecular study (COL1A1/COL1A2 genes)

Diagnosis
➢ Clinical diagnosis
➢ Suspect in patient with recurrent fracture.
➢ Need to rule out non-accidental injury (abuse)

Classification

Management
➢ Bisphosphonate (alendronate)
➢ Genetic counselling
➢ Advise low impact activity.