Figure 1.

Pedigree of the SYNS4 family with congenital carpal tarsal coalition and progressive vertebral and ossicle joint ossification: All affected family members (filled symbols) presented with a degree of vertebral fusion and disruption of the TOSPEAK gene [17]. Nearly 50% of affected family members tested presented with bilateral fusion of carpal and tarsal joints [17]. The severity of phonological speech impairment was varied and more severe in affected males in association with ossification and malformation of laryngeal cartilages and ligaments [18]. Square symbols (Males), Circle symbols (Females), Filled symbols (Affected). Blank circles (Unaffected), Proband (Arrowed for fibroblast cell line testing), * (Fresh Blood testing for GDF6 expression).