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diastrophic dysplasia

Tuesday 6 September 2005

Diastrophic dysplasia is a rare autosomal recessive bone dysplasia.

Synopsis

- variable micromelic dwarfism without thoracic dysplasia, - foot deformities

  • tarsus valgus
  • metatarsus adductus
  • clubfoot

- ulnar deviation of the hands with abnormally placed thumbs (hitch hiker deformity)
- flexion contractures

  • multiple subluxations or dislocations

- hitch hiker thumb