Graham–Boyle–Troxell syndrome

Last updated
Graham-Boyle-Troxell syndrome
Specialty Pediatry
CausesUnknown, 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

  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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