Figure 2. Pedigree diagrams of the three participating families. Circles represent females, squares males and rhombi offspring of unknown sex. Filled symbols indicate clinically affected individuals. HGPPS-patients are marked by arrows: patient 1 (II.1) and patient 2 (II.2) in A, patient 3 (II.1) in B and patient 4 (II.1) in C. All patients were born to consanguineous parents.