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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The clavicular hypoplasia leads to an abnormally low positioning of the shoulders, which can be commonly apposed anteriorly.

Common features include

  • frontal bossing
  • joint hyperlaxity leading to genu valgum
  • dental anomalies
  • there may be proportionate short stature

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