ABSENT RADIUS
The case repsents absence of radius alongwith absent first metacarpal and associated hypoplasia of the thumb.
Absent radius is a very rare medical condition in which the radius bone is not developed. This results in a typical position of the arm in which the wrist is plantarflexed and radially deviated.
The aetiology of radial club hand or radial dysplasia can be divided into:
1.sporadic cases, which are not inherited and are presumed to be due to de novo genetic mutations
2.syndromal cases; certain syndromes have a higher than expected association with radial dysplasia. Typically, organ systems are affected that develop at the same time as the upper limb :
§VACTERL or VATER syndrome
§Thrombocytopaenia with Absent Radius (TAR syndrome)
§craniofacial syndromes:
§skeletal syndromes and isolated skeletal associations:
§teratogens:
§radiations
1 comments:
Here is a link to more information about the genetics of Thrombocytopenia-Absent Radius Syndrome that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Thrombocytopenia-Absent_Radius_Syndrome/778. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA
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