Neurofibromatosis with fully expressed Noonan syndrome.
We present an 18-year-old man with neurofibromatosis (NF) and classic manifestations of the Noonan syndrome (NS), including the cardiac findings. His father also has neurofibromatosis but only some of the characteristics of Noonan syndrome. This case lends further support to the notion that the neurofibromatosis-Noonan syndrome (NF-NS) is a discrete entity and demonstrates that the NF-NS can be inherited, with variable expression of the Noonan phenotype within a family.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics*; D009634:Noonan Syndrome / Q000150:complications / Q000235:genetics*