Abstract:Clinicians often have difficulties diagnosing patients with subtle phenotypes of Noonan syndrome phenotypes. Facial recognition technology can help in the identification of several genetic syndromes with facial dysmorphic features, especially those with mild or atypical phenotypes. A patient visited our clinic at 5 years of age with short stature. She was administered growth hormone treatment for 6 years, but her growth curve was still below the 3rd percentile. She and her mother had wide-spaced eyes and short… Show more
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