Snapshot A 6-year-old boy is brought to the pediatrician for a well child visit. The mother reports that the patient has been otherwise well; however, she has noticed that he has had multiple middle ear infections. He has been having some learning difficulty in school. On physical examination, the patient has widely spaced teeth, prominent ear lobes, and a short nose with full nasal tip. He is also overly friendly and has a systolic murmur in the aortic region. (Williams syndrome) Cri-Du-Chat Syndrome (5p Deletion Syndrome) Clinical definition login to view 2 more bullets Pathogenesis login to view 2 more bullets Clinical presentation login to view 8 more bullets Williams Syndrome Clinical definition login to view 2 more bullets Pathogenesis login to view 1 more bullet Clinical presentation login to view 13 more bullets 22q11 Microdeletions Clinical definition login to view 10 more bullets Specific 22q11 microdeletion syndromes login to view 21 more bullets