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Graham-Boyle-Troxell syndrome, also known as Cystic hamartoma of the lung and kidney, is an extremely rare congenital malformation which is characterized by benign hamartomatous cysts present in the lung and kidney. Symptoms include respiratory insufficiency, recurrent respiratory infections, and hypertension. Additional radiological features include hyperplastic nephromegaly, dysplastic medulla, and mesoblastic nephroma. Only three cases have been described in medical literature.

Its inheritance pattern is not known.

References

1. "Graham Boyle Troxell syndrome". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-09-11.
2. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Search a disease". www.orpha.net. Retrieved 2022-09-11.{{cite web}}: CS1 maint: numeric names: authors list (link)
3. "Graham Boyle Troxell Syndrome". DoveMed. Retrieved 2022-09-11.
4. "Graham Boyle Troxell syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-09-11.
5. Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "Graham-Boyle-Troxell Syndrome", Syndromes: Rapid Recognition and Perioperative Implications, New York, NY: The McGraw-Hill Companies, retrieved 2022-09-11
6. Graham, J. M.; Boyle, W.; Troxell, J.; Cullity, G. J.; Sprague, P. L.; Beckwith, J. B. (May 1987). "Cystic hamartomata of lung and kidney: a spectrum of developmental abnormalities". American Journal of Medical Genetics. 27 (1): 45–59. doi:10.1002/ajmg.1320270107. ISSN 0148-7299. PMID 3605206.

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