Progressive hydrocephalus in two members of a family with autosomal dominant Noonan phenotype

Abstract

We present a family with an autosomal dominant phenotype characterized by pulmonary valve stenosis, craniofacial dysplasia with marked hypertelorism and, as a variable feature, progressive hydrocephalus. This phenotype is manifested in four patients from three subsequent generations of a family, with expression ranging from mild pulmonary stenosis combined with slight but characteristic facial dysmorphism to severe cyanotic pulmonary valve stenosis with multiple malformations lethal in early childhood. We consider this to be an unusual variant of Noonan syndrome.