Bannayan-Riley-Ruvalcaba-Syndrome - a rare differential diagnosis in children with macrocephaly

K Wagner,A Schwerinnagel,Sabine Uhrig, E Heitzer,M Brunnerkrainz, P Lindbichler,U Grubersedlmayr

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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