Myotonic dystrophy is an autosomal dominant disorder with variable penetrance. The congenital form of myotonic dystrophy (CMD) is potentially fatal with an estimated incidence of 13 : 100 000. We report a patient illustrating many of the neonatal features of this condition, but also complicated by eventration of the diaphragm and the previously undescribed presence of cardiac conduction defects in the neonatal period.
Pediatrics International Vol. 52, Issue 1, p. E6-E8