Friday, May 30, 2014

Rare Syndromes: Duane Syndrome with Radial Ray Anomaly

Duane Syndrome is an rare birth anomaly of the eyes in which the patient can't move the eye outward. It has been know to exist for more than 100 years.  But more recently it has been linked to a defect of the SALL4 gene and related to miswiring of the eye muscles or a missing cranial nerve to the eye muscles.

Now, by now, you are wondering why a hand surgeon is writing about a rare eye disorder.  Well, the answer to that reasonable question is that there is super rare link between Duane Syndrome and Radial Ray Disorders (that is radial longitudinal deficiency).  I have previously blogged plenty about radial longitudinal deficiency (link to previous posts) but I found this patient to be very interesting.  His arm has not been treated and, as a teenager, it is rare that we come across such a patient.  He does well functionally but obviously has his limits.  He is limited due to the short forearm on the right, the lack of a good thumb on the right side, and some limited motion and function on the left.  Importantly, the reasonable function on the left makes his overall function ok.  However, we ask whether we can make his function better with therapy or surgery.  While we do not believe straightening the right forearm makes sense, providing a good thumb will help his function.  The pollicization procedure is being planned.

Note short right arm with radial longitudinal deficiency.





Left hand.  There are some forearm anomalies which limit rotation but the hand appears satisfactory.

Severe radial deficiency with a circular ulna- highly uncommon.  There are 4 reasonable fingers and no thumb.

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