FROM PITT-ROGERS-DANKS SYNDROME TO WOLF-HIRSCHHORN SYNDROME - AND BACK

Apparently normal chromosomes without molecular 4p 16.3 deletion were found in a patient with a Wolf-Hirschhorn syndrome (WHS) phenotype. Du ring a 10-year-period of observation he consistently presented with ty pical facial appearance, moderate to severe mental retardation, normal physical development with normal head circumference. Genetic results and the relatively mild clinical manifestations suggest that a diagnos is of Pitt-Rogers-Danks syndrome (PRDS) may be more likely in this pat ient. If WHS and PRDS will ultimately prove to be caused by haploinsuf ficiency of the same gene in 4p16, nondeleted patients such as the pre sent one will be good candidates for the search of point mutations in such putative gene.