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Published on: April 11, 2012

Functional analysis of upper limb deformities in osteogenesis imperfecta

Masatoshi Amako1, François Fassier, Reggie C Hamdy

  • 1Department of Orthopedic Surgery, Japan Self-Defense Force Sapporo General Hospital, Sapporo, Hokkaido, Japan.

Journal of Pediatric Orthopedics
|October 27, 2004
PubMed

Insights

Upper limb deformities in children with osteogenesis imperfecta (OI) are common, especially in type 3. These deformities significantly impact daily living activities, affecting mobility and self-care.

Area of Science:

  • Pediatric Orthopedics
  • Genetics
  • Rehabilitation Medicine

Background:

  • Osteogenesis imperfecta (OI) is a genetic disorder characterized by brittle bones.
  • Upper limb deformities are a known complication, but their functional impact requires further elucidation.

Purpose of the Study:

  • To assess the prevalence and severity of upper limb deformities in children with OI.
  • To evaluate the functional outcomes related to these deformities using the Pediatric Evaluation of Disability Inventory (PEDI).

Main Methods:

  • Retrospective review of charts and radiographs of 159 children with OI.
  • Classification of patients based on the modified Sillence classification (types 1, 3, 4, 5).
  • Assessment of upper limb deformities and functional status via PEDI scores.

Main Results:

  • 37.1% of patients exhibited upper limb deformities, with type 3 OI showing the highest incidence and severity.
  • The humerus was the most frequently affected bone, followed by the ulna and radius.
  • Severe deformities significantly lowered PEDI self-care scores, while moderate and severe deformities drastically reduced mobility scores.

Conclusions:

  • Upper limb deformities in OI are not merely cosmetic issues.
  • These deformities substantially impair functional activities, particularly mobility and self-care, in affected children.

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