Abstract
A male infant born at term to a mother with myotonic dystrophy had sufficient evidence of the disease to enable the diagnosis to be made on the first day of postnatal life. Clinical manifestations included profound hypotonia, feeble respiratory efforts, elevation of the right hemidiaphragm, decreased muscle mass in the lower extremities, hirsutism of the lower legs, thin and hypomineralized ribs and long bones, cryptorchidism, and talipes equinovarus. Death occurred at 90 hours of age from respiratory insufficiency. This case further demonstrates that features of myotonic dystrophy can be prenatal in onset.
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