Noonan syndrome physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian
Overview
Physical Examination
The most important part of the diagnosis of Noonan syndrome is a careful physical exam. Although patients often do not manifest all the features of the disorder, certain physical exam findings can orient towards the diagnosis:
- Cardiac auscultation can often detect signs of congenital or acquired heart disease in Noonan syndrome patients. The most common murmur is that of pulmonary stenosis, a harsh crescendo-decrescendo systolic ejection murmur hear best in the pulmonic area (the second intercostal space along the left sternal border). Significant splitting of S2 can also be heard that can be secondary to the RV outflow tract obstruction or and underlying ASD. Another possible finding is a systolic ejection murmur at the aortic site without radiation to the carotids that decreases with squatting or handgrip maneuvers signifying the possible presence of hypertrophic cardiomyopathy.
- Assessment of auditory acuity is important since some form of loss of hearing can be seen in some patients (10% have low frequency deficits, 25% have high frequency deficits)
- Signs of heart failure including pulmonary congestion, increased JVD, and edema should be noted.
- Skin abnormalities including multiple pigmented nevi, café au lait spots, keratosis pilaris of upper arms and face and lentigines can be seen although not very common.
- Short stature is common in Noonan syndrome especially during puberty since pubertal growth is usually delayed. However, adult height can often be normal.
- Delayed onset of puberty can be seen in some patients with at least one third entering pubertal age after 13.
- Assessment for cryptorchidism is important since at least 80% of males have unilateral or bilateral cryptorchidism.
- Signs of thrombocytopenia or coagulation defects can be seen in about half of the patients presenting with easy bruising or bleeding.
- Peripheral lymphedema can be seen in 20% of patients.
- Skeletal abnormalities are detectable in many patients with Noonan syndrome particularly spiny deformities and chest deformities like pectus carinatum and pectus excavatum.
- Ocular findings are found in 95% of patients including strabismus, amblyopia, nystagmus, refractive errors, and cataracts.
References
Template:Phakomatoses and other congenital malformations not elsewhere classified