Noonan phenotype in the basal cell nevus syndrome.
In this report we present a three-generation family in which five members present the basal cell nevus syndrome. In three of them a Noonan phenotype was present. The basal cell nervus syndrome is another example of a neural crest dysplasia associated with a Noonan-like phenotype. This observation supports the theory that the autosomal dominant mutation causing the neural crest dysplasia may lead to a Noonan-like phenotype.
Grubben
C
C
Center for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
Smeets
E
E
Van den Berghe
H
H
D000328:Adult; D000368:Aged; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype