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Clinical features

Authoring team

These include:

  • females affected more than males
  • mental retardation
  • facies:
    • microcephalic with prominent occiput
    • low set, dysplastic ear
    • crowded face with micrognathia and small eyes
  • limbs:
    • flexed fingers with overlapping index and fifth finger, rockerbottom feet
  • cryptorchidism
  • short sternum
  • cardiac:
    • especially ventricular septal defect
  • low birth weight
  • apnoea, which can be the actual cause of death

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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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