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

Abstrakt

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.

Klíčová slova

• Noonan
• syndrome
• with
• multiple
• lentigines
• congenital
• myotonic
• dystrophy
• type
• newborn