Article
Progressive hydrocephalus in two members of a family with autosomal dominant Noonan phenotype.
Clinical dysmorphology - 1 Apr 1997
Henn W, Reichert H, Nienhaus H, Zankl M, Lindinger A, Hoffmann W, Zang K D
Abstract excerpt
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,...
Topics
- Adult
- Child, Preschool
- Genes, Dominant
- Humans
- Hydrocephalus
- Infant
- Noonan Syndrome
- Pedigree
- Phenotype