Graham-Boyle-Troxell syndrome, also known as Cystic hamartoma of the lung and kidney,[1] is an extremely rare congenital malformation which is characterized by benign hamartomatous cysts present in the lung and kidney.[2][3] Symptoms include respiratory insufficiency, recurrent respiratory infections, and hypertension.[4] Additional radiological features include hyperplastic nephromegaly, dysplastic medulla, and mesoblastic nephroma.[5] Only three cases have been described in medical literature.[6]
| Graham-Boyle-Troxell syndrome | |
|---|---|
| Specialty | Pediatry |
| Causes | Unknown, although it is a congenital condition |
Its inheritance pattern is not known.
References
edit- ^ "Graham Boyle Troxell syndrome". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-09-11.
- ^ 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) - ^ "Graham Boyle Troxell Syndrome". DoveMed. Retrieved 2022-09-11.
- ^ "Graham Boyle Troxell syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-09-11.
- ^ 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
- ^ 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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