Medicine:Graham–Boyle–Troxell syndrome
From HandWiki
| Graham-Boyle-Troxell syndrome | |
|---|---|
| Specialty | Pediatry |
| Causes | Unknown, although it is a congenital condition |
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]
Its inheritance pattern is not known.
References
- ↑ "Graham Boyle Troxell syndrome" (in en-US). 16 June 2022. https://rarediseases.org/gard-rare-disease/graham-boyle-troxell-syndrome/.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Search a disease" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2022.
- ↑ "Graham Boyle Troxell Syndrome" (in en). http://www.dovemed.com/diseases-conditions/graham-boyle-troxell-syndrome/.
- ↑ "Graham Boyle Troxell syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/2557/graham-boyle-troxell-syndrome.
- ↑ 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), http://accessanesthesiology.mhmedical.com/content.aspx?aid=58078486, 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. https://pubmed.ncbi.nlm.nih.gov/3605206/.
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