22q11.2 deletion syndrome physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Physical Examination
Head
- Palatal abnormalities (69%), particularly velopharyngeal incompetence (VPI), submucosal cleft palate, and cleft palate; characteristic facial features (present in the majority of Caucasian individuals) including hypertelorism.
Ear
Throat
- Laryngotracheoesophageal anomalies
Extremities
- Skeletal abnormalities
Neurologic
- Autism and Autism spectrum disorders
- Seizures (without hypocalcemia)
- Learning difficulties (70-90%)