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Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

Arteriovenous malformation

An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.

合計: 1

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PMID (PMCID)
16061556	FEMALE	Adult
	Arteriovenous malformations in Cowden syndrome.
	Turnbull MM, Humeniuk V, Stein B, Suthers GK. J Med Genet. 2005;42(8):e50.
	Visceral arteriovenous malformations are a recognised component of the Bannayan-Riley-Ruvalcaba syndrome but have been reported rarely in Cowden syndrome.