Noonan syndrome in an adult family presenting with chronic lymphedema.
A 27 year old man with multiple findings of the Noonan syndrome ("male Turner" phenotype) presented with chronic lymphedema which was also present in his mother. Noonan syndrome should be considered in the differential diagnosis of chronic or familial lymphedema.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D002908:Chronic Disease; D003937:Diagnosis, Differential; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006801:Humans; D008209:Lymphedema / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008844:Micrognathism / Q000175:diagnosis; D008875:Middle Aged; D009333:Neck / Q000002:abnormalities; D010375:Pedigree; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*