Short stature and dysmorphism in the child and adolescent female. Diagnostic dilemmas.
The clinician often encounters girls with varying combinations of short stature and subtle dysmorphic features that are compatible with either Turner or Noonan syndrome. A classic case of either syndrome with extensive unmistakable traits is the exception rather than the rule. Six cases are presented to help describe some of the difficulties in differential diagnosis and provide strategies to avert them.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D003937:Diagnosis, Differential; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D009634:Noonan Syndrome / Q000175:diagnosis*; D011666:Pulmonary Valve Stenosis / Q000151:congenital; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000175:diagnosis