Molecular analysis for PTEN gene mutation, if: | Macrocephaly plus at least one of the following symptoms | No macrocephaly, no suggestive family history, but | Family history positive for PTEN gene mutation |
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Autism spectrum disorder or developmental delay | Two major criteria | Molecular analysis for PTEN gene mutation, if one parent is carrier of a mutation. | |
Dermatologic features: penile freckling, lipoma, trichilemmomas, oral papillomas, hemangioma | One major criterion plus two minor criteria | ||
Multiple gastrointestinal hamartomata or ganglioneuromata | |||
Vascular anomalies | Three minor criteria | ||
Thyroid pathologies (particularly adenoma and carcinoma) | |||
Enlarged perivascular spaces in cMRI |