Bannayan-Riley-Ruvalcaba-Syndrome - a Rare Differential Diagnosis in Children with Macrocephaly

A Schwerin-Nagel, S Uhrig, E Heitzer, K Wagner, U Gruber-Sedlmayr, P Lindbichler, M Brunner-Krainz

Neuropediatrics（2012）

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摘要

Bannayan-Riley-Ruvalcaba-Syndrom (BRRS) belongs like Cowden Syndrome, Lhermitte-Duclos Disease and Proteus Syndrome to PTEN harmatoma tumor syndromes (PTHS). PHTS is characterised by germline mutations of the tumor suppressor gens PTEN. Lipomas are also indicative for BRRS.

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