Table 3.

Pediatric Clinical Criteria for PTEN Testing^a

Clinical Features	Percent Prevalence in CC Data Set of Pediatric Probands with PTEN Mutation
1. Macrocephaly (≥2 SD)	100%
2. At least one of the following four additional criteria should be present:
- Autism or developmental delay	82%
- Dermatologic features, including lipomas, trichilemmomas, oral papillomas, penile freckling	60%
- Vascular features, such as arteriovenous malformations or hemangiomas	29%
- Gastrointestinal polyps	14%

^aIn addition, pediatric-onset thyroid cancer and germ cell tumors (testicular cancer and dysgerminoma) are recognized associations of Cowden syndrome and should provoke consideration of PTEN testing.