Noonan syndrom with multiple lentigines and congenital myotonic dystrophy type 1 in a newborn

Abstract

The paper describes a case study of a rare combination of the two above-mentioned genetic syndromes with familial incidence diagnosed prenatally in a newborn with a complicated perinatal history. The actual case report and the attached photographic documentation emphasize the presence of typical clinical symptoms for individual diseases.

Keywords

• Noonan syndrome with multiple lentigines
• myotonic dystrophy
• Leopard syndrome
• hypertrophic cardiomyopathy