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. 2023 Jul 5;18:178. doi: 10.1186/s13023-023-02792-5

Table 2.

Major and minor criteria for the diagnosis of GGS [24]

Major criteria Minor criteria
Lamellar calcification of the falx < age 20 years Childhood medulloblastoma
Jaw keratocyst Lympho-mesenteric or pleural cysts
Palmar/plantar pits (≥ 2) Macrocephaly (Occipitofrontal Circumference > 97th centile)
Basal cell carcinomas (> 5 in a lifetime or 1 basal cell carcinoma before age of 30) Cleft lip/palate
First-degree relative with NBCCS Vertebral/rib anomalies
Preaxial or postaxial polydactyly
Ovarian/cardiac fibromas
Ocular anomalies (e.g., cataract)