Is autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA responsible for Treacher Collins syndrome?
This is the first report of POLR1D mutation being responsible for an autosomal recessive inherited Treacher Collins syndrome. These results reinforce the concept of genetic heterogeneity of Treacher Collins syndrome and underline the importance of combining clinical expertise and familial molecular analyses for appropriate genetic counseling.
The similar rate and magnitude of cutaneous temperature change in the distal lower extremity suggests the degree of sympathetic blockade is similar with lumbar sympathetic blockade and epidural anesthesia. Either technique should provide adequate sympathectomy for treating sympathetically maintained pain once the diagnosis has been confirmed using selective sympathetic blockade.