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Clinical features

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Characteristically the trunk is of normal length but the limbs are very short, especially proximally - rhizomelia, and broad. The vault of the skull is enlarged. Lumbar lordosis is present. Individuals with this condition often have a small face with a nose bridge that is flat. There may be brachydactyly with trident appearance of the hands.

This condition has no effect on intelligence.

There is said to be an association with shoulder weakness.


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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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