Ullrich-Noonan syndrome.
A case of Ullrich-Noonan syndrome with pulmonary stenosis, epicanthus, ptosis, small stature, curved tibia, positive sex chromatin, and a diploid chromosome number is presented. A detailed chromosomal banding analysis with the G-staining, C-staining and Ag-I-staining techniques revealed no significant anomalies. The literature is reviewed and the criteria for diagnosing Ullrich-Noonan syndrome are presented.
D000328:Adult; D002871:Chromosome Banding / Q000379:methods; D005260:Female; D006801:Humans; D007621:Karyotyping; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics*