Wolf-Hirschhorn (4p) syndrome in adults

Wolf-Hirschhorn syndrome (WHS) or 4p-deletion syndrome has been extensively described in children. Knowledge on adult WHS patients is still limited du e to the small number of published cases. We present 4 adults and review th e literature, The phenotype of adult WHS is in general similar to that of c hildhood WHS. Growth retardation, microcephaly and mental retardation are t he rule in both adults and children. Facial dysmorphism also remains simila r. The main difference lies in the absence of serious internal (cardiac) ab normalities in adult WHS. Mental retardation ranges from moderate to severe . The nosological overlap between WHS and Pitt-Rogers-Danks syndrome (PRDS) is discussed. More extensive data on adult WHS are needed for appropriate counselling of families with affected young children.