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Congenital myotonic dystrophy: natural disease progression and facial dysmorphology.

Clinical summary A 20-year-old patient was referred by her general practitioner to the genetics clinic for the diagnosis of Russell–Silver syndrome because of her extreme short stature and facial dysmorphism. In terms of family history, she was the fourth child of healthy, nonconsanguineous, white European parents and had two older brothers who were said to be fit and well. An older sibling had passed away at a few days of age, thought to be due to prematurity at 30 weeks’ gestation. There was nothing else of significance in the rest of the family history.