Noonan syndrome imaging findings

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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]

Echocardiography

Echocardiograms can show right ventricular enlargement with mild to moderate increase in the thickness of the free wall of the right ventricle. Left ventricular function is generally normal.


Pulmonary valve recordings can show poor a wave definition.

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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