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Study Cohort with Facial Infiltrating Lipomatosis
| Participant 1 | Participant 2 | Participant 3 | |
|---|---|---|---|
| PIK3CA Mutation | p.H1047R | p.H1047R | p.H1047L |
| Age at operation (years) | 3 | 8 | 15 |
| Sex | Male | Female | Female |
| Side of facial overgrowth | Right | Left | Left |
| Hemifacial overgrowth | + | + | + |
| Mucosal neuromas | + | + | + |
| Macrodontia | + | + | + |
| Hemimacroglossia | + | + | + |
| Epidermal nevus | − | − | − |
| Hand or foot anomalies | − | − | − |
| Spinal anomalies | − | − | − |
| Brain anomalies | − | − | − |
| Vascular malformations | − | − | − |
