Wolf-Hirschhorn syndrome (WHS), a multiple congenital malformation syndrome, and Pitt-Rogers-Danks syndrome, are a rare condition but with similar anomalies, it was previously thought to be clinically a distinct conditions. WHS has been a long associated with deletions in the 4p16.3.
PITT-ROGERS-DANK SYNDROME: THE RESULT OF A 4p MICRODELETOION.
Pitt-Rogers-Danks Syndrome (PRDS) is a rare, presumed autosomal recessive, syndrome with pre-and postnatal growth retardation, microcephaly, characteristic facial appearance, seizures, unusual palmar creases and developmental delay. Since the first description in 1984, only 7 cases have been reported. We report the identification of a 4p microdeletion in 2 new patients, who were previously diagnosed with PRDS, as well as the sibs in Pitt et al. . PRDS can no longer be considered autosomal recessive. ALthough our cases are attributable to a microdeletion in 4p16, it is uncertain if the critical region involves a single locue or multiple loci or to what extent this region overlaps with the critical region for Wolf-Hirschhorn Syndrome.