Bannayan-Riley-Ruvalcabas syndrom og juvenil polypose hos en toårig pige

Louise Dyrberg Vibede, Uffe Birk Jensen, Tine Høg Sørensen, Lia Mendes Pedersen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

1 Citationer (Scopus)

Abstract

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.
OriginalsprogDansk
Vol/bind174
Sider (fra-til)1614-1615
Antal sider2
ISSN0041-5782
StatusUdgivet - 2012
Udgivet eksterntJa

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