Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome.

The Ehlers–Danlos syndromes (EDS) encompass a group of clinical entities caused by genetic defects in- volving the biosynthesis of fibrillar collagens [Beighton et al., 1998]. One of the most common forms of EDS is the classical type, characterized by soft, hyperexensible skin, joint hypermobility, increased tendency to bruise, and abnormal scarring [Steinmann et al., 1993]. Defects in type V collagen, a regulator of type I collagen fibril- logenesis, have been shown to underlie this type of EDS [Wenstrup et al., 1996; De Paepe et al., 1997]...