Emery‐Dreifuss syndrome in three generations of females, including identical twins

Abstract

Emery-Dreifuss syndrome is characterized by early contractures, slowly progressing muscle wasting and cardiomyopathy, often presenting as heart block. The syndrome is usually inherited as an X-linked recessive. We present a family with four affected females in three generations, including a pair of identical twins. All patients developed elbow contractures, scoliosis, and stiffness of the spine and neck from the age of about 10, with little progression in later years. The proband developed cardiomyopathy at the age of 45, whereas her mother died at 41 without a confirmed diagnosis of cardiomyopathy. The twin daughters of the proband had no unequivocal signs of cardiomyopathy at the age of 21 years. Early recognition of this syndrome is important because of the possible development of heart block.