Noonan syndrome imaging findings

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Noonan syndrome Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian

Overview

Imaging Findings

Several imaging findings can aid in the diagnosis of Noonan syndrome. Plain film chest x-rays are usually normal with cardiothoracic ratio not necessarily indicative of disease severity.

Roentgenograms can show pectus excavatum or carinatum. [1] Abdominal ultrasound is usually normal but can sometimes show hepatosplenomegaly or renal abnormalities. [2]

Echocardiogram

References

  1. Duncan WJ, Fowler RS, Farkas LG, Ross RB, Wright AW, Bloom KR; et al. (1981). "A comprehensive scoring system for evaluating Noonan syndrome". Am J Med Genet. 10 (1): 37–50. doi:10.1002/ajmg.1320100106. PMID 7294061.
  2. George CD, Patton MA, el Sawi M, Sharland M, Adam EJ (1993). "Abdominal ultrasound in Noonan syndrome: a study of 44 patients". Pediatr Radiol. 23 (4): 316–8. PMID 8414765‎ Check |pmid= value (help).

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