Sclerosis of the Skin in the GEMSS Syndrome

Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome

“…One hundred and twenty eight patients with sporadic, AR or AD WMS reported in the literature from 1932 to 2001 were reviewed with a particular attention to clinical features [Weill, 1932; Marchesani, 1939; Meyer and Holstein, 1941; Schmid, 1946; Stadlin and Klein, 1948; Rousseau and Hermann, 1949; Probert, 1953; Kloepfer and Rosenthal, 1955; Zabriske and Reisman, 1958; Feinberg, 1960; Duque Estrada, 1961; Jones, 1961; Rahman and Rahman, 1963; Hobbs, 1965; Mc Gavic, 1966; Dhanda, 1967; Feiler‐Ofry et al, 1968; King, 1969; Rennert, 1969; Sarma, 1969; Sellem et al, 1970; Soriano and Psilas, 1970; Combe et al, 1971; Larmande and Jézégabel, 1971; Paton and Murdoch, 1971; Amla et al, 1972; Willi et al, 1973; Gorlin et al, 1974; Jensen et al, 1974; Amos and Tilzer, 1976; Cordier et al, 1976; Ferrier et al, 1980; Schmidt and Bernth‐Petersen, 1981; Bebe, 1983; Lee Dellon et al, 1983; Jouhaud et al, 1984; Woodward, 1984; Young et al, 1986; Fujiwara et al, 1990; Haik et al, 1990; Verloes et al, 1992; Kulkarni et al, 1995; Kunz et al, 1995; Nagata et al, 1995; Dietlein et al, 1996; Taylor, 1996; Wirtz et al, 1996; Giordano et al, 1997; Dietlein et al, 1998; Groessl and Anderson, 1998; Evereklioglu et al, 1999; Megarbane et al, 2000]. Inclusion criteria for the diagnosis of WMS were: (i) short stature, (ii) brachydactyly, (iii) microspherophakia and/or ectopia lentis.…”