“…Kyphomelic dysplasia is a rare, probably autosomal recessive skeletal dysplasia characterized principally by marked symmetric bowing and shortening of the femora, with relative sparing of the other long bones, and absence of other consistent dysmorphic features [Maclean et al, 1983]. Additional common features, among previously reported cases, include micrognathia, mild shortening with or without bowing of the remaining long bones, flared metaphyses, narrow chest, and an excess of affected males [Khajavi et al, 1976; Hall and Spranger, 1979; Maclean et al, 1983; Rezza et al, 1984; Viljoen and Beighton, 1988; Temple et al, 1989; Turnpenny et al, 1990, Maffulli et al, 1993; O'Reilly and Hall, 1994; Corder et al, 1995; Chen et al, 1998; Cisarik et al, 1999; Pollotta et al, 1999; Prasad et al, 2000; Guala et al, 2001]. Our case demonstrated most of the above features with the exception of narrow chest and obvious metaphyseal flaring.…”