Neonatal myotonic dystrophy as a cause of hydramnios and neonatal death. A case report and literature review

Abstract

A woman had three consecutive pregnancies complicated by hydramnios and early neonatal death. The identical prenatal and neonatal course, family history and, ultimately, maternal diagnosis supported the diagnosis of recurrent severe neonatal myotonic dystrophy. Ultrasonographic observation of the last fetus affected suggested and predicted the neonatal features of the disease.