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Diastrophic Dysplasia

How is it diagnosed?

DTD is diagnosed by recognition of the clinical features of the disorder, radiographic (x-ray) findings and in some cases by molecular genetic testing of the SLC26A2 gene.

View What are the symptoms? What are the symptoms?  |  How is it treated? View How is it treated?

Medical text written January 2005 by Contact a Family. Approved January 2005 by Dr M Wright, Consultant Clinical Geneticist, Institute of Medical Genetics, International Centre for Life, Newcastle upon Tyne, UK.

 

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