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Clinical features

Authoring team

The clinical features of thanatophoric dysplasia include:

  • micromelic limbs - rhizomelic shortening
  • macrocephaly with frontal bossing
  • squat vertebral bodies
  • short ribs limit the capacity of the thorax

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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