A seemingly unaffected 18-year-old girl in the youngest generation of a Portuguese family(68) carried their R218H mutation in TGFβ1. These investigators(70) reported significant intrafamilial variability for CED, including five individuals within four families who did not have clinical manifestations despite a TGFβ1 mutation. The gene discussed is TGFB1; the disease is cranioectodermal dysplasia.