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Noonan syndrome with multiple lentigines and congenital myotonic dystrophy type I in a newborn

Publication at Faculty of Medicine in Pilsen |
2019

Abstract

Noonan syndrome with multiple lentigines, also called the Leopard syndrome, is a complex dysmorphogenetic disorder. The term Leopard is an acronym consisting of the main clinical features: Lentigines, Electrocardiographic conduction abnormalities, but also hypetrophic obstructive cardiomyopathy, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, Deafness.