Neurofibromatosis-Noonan syndrome.
Type I neurofibromatosis (NF-1) and Noonan syndrome (NS) are two fairly common genetic disorders. Patients with features of both disorders have been described, but considerable variability of phenotypic expression occurs. As a result, the correct nosology of this syndrome is uncertain. We present a patient with full expression of both NF-1 and NS phenotypes, and discuss the debate regarding the genetics of the combined syndrome.
Buehning
L
L
Division of Dermatology, University of California at San Diego, La Jolla 92093-0645, USA.
Curry
C J
CJ
D000328:Adult; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009634:Noonan Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics