Poland's syndrome in one identical twin

Abstract

Female twins were evaluated at the Shriners Hospital in Lexington, Kentucky. One twin was normal, and the other twin had the classic findings of Poland's syndrome, manifested by absence of the pectoralis major and symbrachydactyly of the right upper extremity. Buccal smears from each child were submitted for DNA testing. The test confirmed monozygosity with 99.9% probability. Some previous reports have stated that Poland's syndrome is an autosomal dominant, genetically determined trait, whereas others have maintained that there is no genetic association. The original case described by Poland in 1841 was his cadaver, and no family history was reported. This twin study provides strong evidence that the condition is not determined by gene transmission.