| Popis: |
Bannayan-Riley-Ruvalcaba syndrome is a rare disease, which is characterized by macrocephaly, benign hamartomas, lipomas, haemangiomas, pigmented maculae, developmental delay and mental retardation. This case report describes how the combination of macrocephaly, hypertelorism, high palate and intestinal polyposis led to the diagnosis of this syndrome in a two year and seven month-old girl. The diagnosis was confirmed by molecular genetic analysis showing deletion of the entire PTEN gene and the majority of the neighbouring gene BMPR1A, which predisposes to juvenile polyposis. |
