Arterial tortuosity syndrome: A rare entity
- PMID: 20300242
- PMCID: PMC2840741
- DOI: 10.4103/0974-2069.41060
Arterial tortuosity syndrome: A rare entity
Abstract
We present a 5 month old baby who was referred for an incidental detection of a murmur and was found to have tortuous pulmonary arteries with multiple peripheral pulmonary stenoses and bilateral inguinal hernia pointing towards the diagnosis of arterial tortuosity syndrome.
Keywords: Arterial tortuosity syndrome; tortuous pulmonary arteries.
Conflict of interest statement
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References
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- Lees MH, Menash EV, Sunderland CO, Magan CL, Dawson PJ. Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries. J Pediatr. 1969;75:1031–6. - PubMed
-
- Al Fadley F, Al Manea W, Nykanen DG, Bulbul Z, Halees Z. Severe tortuosity and stenosis of the systemic, pulmonary and coronary vessels in 12 patients with similar phenotypic features: A new syndrome? Cardiol Young. 2000;10:582–9. - PubMed
-
- Pletcher BA, Fox JE, Boxer RA, Singh S, Blumenthal D, Cohen T, et al. Four sibs (or siblings) with arterial tortuosity: Description and review of literature. Am J Med Genet. 1996;11:121–8. - PubMed
-
- Zaidi SH, Peltekova V, Meyers S, Lindinger A, Paterson AD, Tsui LC, et al. A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. Clin Genet. 2005;67:183–8. - PubMed
