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Moore-Federman syndrome and acromicric dysplasia: are they the same entity?
  1. R M Winter,
  2. M A Patton,
  3. J Challener,
  4. R F Mueller,
  5. M Baraitser
  1. Kennedy Galton Centre, Northwick Park Hospital, London.

    Abstract

    Four unrelated patients are reported with short stature, stiffness of the joints, short fingers, inability to make a fist, and thickened skin on the forearms. Investigations have failed to show a lysosomal storage disorder and radiographs show non-specific changes with a delayed carpal bone age. The clinical features in the four children are very similar to the recently described acromicric dysplasia. There are also similarities to Moore-Federman syndrome which has only been described in one family. The case is made that acromicric dysplasia and Moore-Federman syndrome are the same entity.

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