Page 31 - Clinical variability in Noonan syndrome with emphasison ear and eye
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Neck (webbed, short) or low hairline Visual impairment (glasses/ lenses) Sensorineural hearing impairment Pectus deformities
Cryptorchidism
Short stature (below -2 SD)
Skin (keratosis, lentigines, café au lait)
Congenital heart disease
Feeding difficulties
Pain in extremities
Coagulation difficulties (prolonged bleeding or easy hematomas)
Mental developmental delay/ intellectual disabilities
Motor developmental delay Social problems
Behavior/ psychological problems
- + -
- + +
- - +
- - -
- NA NA NA NA
- - + - - - + - - NA - - - - - - - - + - - -
- -
+ + - - - -
- + - - + + - - - + + + + NA - - - - - - - - - - - + + - + + + - -
- + -
+ + + - +/- - + +-
VARIABLE PHENOTYPIC EXPRESSION IN A LARGE NOONAN SYNDROME FAMILY
Table 1. Clinical characteristics family members with SOS1 mutation
Clinical characteristics
SOS1 c.3134C>G, p.Pro1045Arg + + + + + + + + + + Age (years) 69 67 73 42 45 42 47 16 13 10 Gender MFFFFMFMFM Facial characteristics
•Hypertelorism -------+++ •Ptosis ++++--+-++
• Up- / downslanting palpebral fissures • Epicanthic folds
• Ear (low set, rotated, protruding)
• Sparse hair – eyebrows
+ --- - - - - - --+ - + - -
- + + - - - - + + + + -
- + + - - + + + + - - -
Amblyopia +----+---+
- - - - - - - - - - - - - - - - - - + - - - - -
- - - -
- - + -
- - - - +/- - - -
- - - - + +
-
- - -
- - - + - - - -
M = male, F = female, NA = Not applicable, SD = standard deviation
patients, sparse eyebrows were noticed without other ectodermal abnormalities. In five of these seven individuals both unilateral and bilateral ptosis was present. Ptosis was the most frequent facial characteristic within the family. Hypertelorism was present in three downslanting palpebral fissures in five, epicanthic folds in one and external ear abnormalities (low set, protruding or rotated ears) in six NS patients. In generation II, no NS facial features were present. In total, four NS patients had pectus excavatum.
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II-1 II-4 II-7 III-4 III-6 III-7 III-11 IV-7 IV-8 IV-10
