Poland's syndrome in one identical twin

Female twins were evaluated at the Shriners Hospital in Lexington, Kentucky . One twin was normal, and the other twin had the classic findings of Polan d's syndrome, manifested by absence of the pectoralis major and symbrachyda ctyly of the right upper extremity. Buccal smears from each child were subm itted for DNA testing. The test confirmed monozygosity with 99.98 probabili ty. Some previous reports have stated that Poland's syndrome is an autosoma l dominant, genetically determined trait, whereas others have maintained th at there is no genetic association. The original case described by Poland i n 1841 was his cadaver, and no family history was reported. This twin study provides strong evidence that the condition is not determined by gene tran smission.