ABSTRACT
Thirteen of the CFEOM cases were sporadic and the remaining 43 belonged to 6 families. Pedigree 1 (Figure 1) consists of 94 individuals 29 of which were affected by the disease. This pedigree presents autosomal dominant trait with variable expressivity (S¸ener, 2000). In 18 of affected members the phenotypic expression of the disorder is consistent with that described for classic CFEOM. The remaining 11 affected members had more variable clinical phenotypes that did not meet CFEOM1 criteria and so the pedigree was classified as CFEOM3. Pedigree 2 and 4 showed autosomal dominant trait with classic CFEOM1 patients. Pedigree 3, 5 and 6 presents features of CFEOM3 as the affected members presents findings variable from classic CFEOM.
