Page 32 - Clinical variability in Noonan syndrome with emphasison ear and eye
P. 32

                CHAPTER 2
 Figure 1. Family tree
Black figuration = clinical NS, pos = SOS1 c.3134C>G, p.Pro1045Arg mutation, neg = genetic testing showed no SOS1 mutation, NT = no genetic testing, black arrow = proband
Three of these were in the youngest generation. The results of the clinical examination are shown in table 1.
Further extensive clinical evaluation was done in seven family members in whom no genetic analysis was performed. One of these individuals (IV-5) was scored as having NS based on the clinical criteria (2). Two family members had suggestive facial features (individual IV-3 and IV-4) with hypertelorism, ptosis and epicanthic folds and individual IV-5 had epicanthic folds, low set ears, pectus deformity and a developmental delay. Individual IV-3 had psychological problems. Amblyopia was present in individual IV-4. In individuals III-2 and III-9 only ptosis was found without any other NS characteristics. The total family is presented in figure 1. Furthermore, in four family members genetic analysis excluded the familiar SOS1 mutation. These four individuals (II-5, IV-6, IV-9, IV-11) had no NS characteristics following the van der Burgt criteria, except the first- degree relative with NS for individuals IV-6, IV-9 and IV-11.
The facial photographs, both frontal and lateral, of individual IV-8, her father (III-7) and her grandmother (II-4) are shown in figure 2. Individual IV-8 had low and protruding ears, hypertelorism, ptosis and downslanting palpebral fissures. Her father had protruding ears and downslanting palpebral fissures. Her grandmother has ptosis (with surgical correction). As shown in table 1, apart from ptosis, only short neck and sparse eyebrows were present in this individual (II-4). In contrast, in
30




























































































   30   31   32   33   34