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Question of the Month – August 2025

You are seeing a 10-year-old female in clinic for the first time. In reviewing the electronic medical record and history with the family, you note that the patient was born by spontaneous vaginal delivery, Apgars were 71 and 95. Parents report that their child did not pass the Critical Congenital Heart Disease screen prior to hospital discharge and subsequently had to have surgery for Tetralogy of Fallot. In addition she has had recurrent respiratory infections and has been treated for otitis media and has had tympanostomy tubes placed. Parents are concerned about her school performance and share that she has always seemed behind. On physical examination you notice: anteverted ears, growth chart at 5th%ile, low anterior hairline, hypertelorism, broad nose, smooth philtrum, thin upper lip. What genetic condition is top on your list of differential diagnoses?
A. Fetal Alcohol Spectrum Disorder
B. Mucopolysaccharidosis II
C. 22q11.2 Deletion Syndrome
D. Noonan spectrum disorder

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