Noonan syndrome imaging findings: Difference between revisions
Rim Halaby (talk | contribs) |
Rim Halaby (talk | contribs) |
||
| Line 8: | Line 8: | ||
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. <ref name="pmid7294061">{{cite journal| author=Duncan WJ, Fowler RS, Farkas LG, Ross RB, Wright AW, Bloom KR et al.| title=A comprehensive scoring system for evaluating Noonan syndrome. | journal=Am J Med Genet | year= 1981 | volume= 10 | issue= 1 | pages= 37-50 | pmid=7294061 | doi=10.1002/ajmg.1320100106 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7294061 }} </ref> Abdominal ultrasound is usually normal but can sometimes show hepatosplenomegaly or renal abnormalities. <ref name="pmid8414765">{{cite journal| author=George CD, Patton MA, el Sawi M, Sharland M, Adam EJ| title=Abdominal ultrasound in Noonan syndrome: a study of 44 patients. | journal=Pediatr Radiol | year= 1993 | volume= 23 | issue= 4 | pages= 316-8 | pmid=8414765 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8414765 }} </ref> | 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. <ref name="pmid7294061">{{cite journal| author=Duncan WJ, Fowler RS, Farkas LG, Ross RB, Wright AW, Bloom KR et al.| title=A comprehensive scoring system for evaluating Noonan syndrome. | journal=Am J Med Genet | year= 1981 | volume= 10 | issue= 1 | pages= 37-50 | pmid=7294061 | doi=10.1002/ajmg.1320100106 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7294061 }} </ref> Abdominal ultrasound is usually normal but can sometimes show hepatosplenomegaly or renal abnormalities. <ref name="pmid8414765">{{cite journal| author=George CD, Patton MA, el Sawi M, Sharland M, Adam EJ| title=Abdominal ultrasound in Noonan syndrome: a study of 44 patients. | journal=Pediatr Radiol | year= 1993 | volume= 23 | issue= 4 | pages= 316-8 | pmid=8414765 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8414765 }} </ref> | ||
=== | ===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== | ==References== | ||
Revision as of 15:49, 11 November 2013
|
Noonan syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Noonan syndrome imaging findings On the Web |
|
American Roentgen Ray Society Images of Noonan syndrome imaging findings |
|
Risk calculators and risk factors for Noonan syndrome imaging findings |
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
- ↑ 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.
- ↑ 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).
Template:Phakomatoses and other congenital malformations not elsewhere classified