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Graham-Boyle-Troxell syndrome

Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.

Rare disease
MONDO0023275UMLSC2931468MeSHC537292
Also known as:Graham-Boyle-Troxell syndrome, cystic hamartoma of lung and kidney, graham Boyle Troxell syndrome, cystic hamartomata of lung and kidney

Key Facts

Key phenotypes
Hypertension, Multicystic kidney dysplasia, Pulmonary fibrosis, Recurrent respiratory infections, Respiratory insufficiency

Relationships

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No data available for this relationship type.