|
Year |
2002 |
|---|---|
|
Question Number |
154 |
|
Category |
Orthopaedic Science |
Question
Which of the following clinical findings are considered musculoskeletal features of Ehlers-Danlos syndrome?
1- Congenital hip dislocation, clubfoot, scoliosis
2- Congenital hip dislocation, joint hypermobility, syndactyly of the hands and feet
3- Frequent fractures, wormian bones, syndactyly of the hands and feet
4- Joint hypermobility, subtalar coalition, duplication of the digits
5- Muscular hypotonia, slow motor development, terminal Amelia
Figures
Answer (click for answer)
Preferred Response: 1
Discussion:
Ehlers-Danlos syndrome is a rare hereditary disorder that affects less than 1 in 20,000 people. It involves the inheritance of connective tissue disorders characterized by hypermobility of the joints and hyperextensibility and fragility of the skin. The genes involved most frequently consist of mutations in the collagen structure of COL1A1 and COL1A2. Typical musculoskeletal features of this syndrome include bilateral congenital dislocation of the hip, severe hypermolbility of multiple other joints, muscular hypotonia, hyperelasticity and fragility of the skin, clubfoot deformity, kyphoscoliosis, and osteopenia.
Reference: Giunta C, Superti-Furga A, Spranger S, Cole WG, Steinmann B: Ehlers-Danlos syndrome type VII: Clinical features and molecular defects. J Bone Joint Surg Am 1999;81:225-238.