and may make diagnosis more difficult particularly in the older patient. Reported craniofacial features include dolichocephaly (a long anterior-posterior diameter of the skull),facial asymmetry, bitemporal depressions, flat mala, full cheeks (sometimes described as sagging cheeks), periorbital fullness, full nasal tip, depressed nasal bridge, long philtrum, full lips, wide mouth, and dental malocclusion (Kotzot et al., 1995; Morris et al., 1988). This constellation of features is said to demonstrate the so-called “elfin” appearance (Jones, 1990). This term is, however, inappropriate in the context of a dysmorphic syndrome (Burn, 1986) and should not be used. It is clear from Figure 1 that the facial appearance does change with time and this may make clinical diagnosis difficult at certain ages