TABLE 2.
Clinical features of the family members of P2
Individuala | Ageb | Affected | Height (cm)/[percentile] | Number of fractures | Change in scleral hue | Other |
---|---|---|---|---|---|---|
years | ||||||
I-1 | 33 | +c | 172 [25th] | 1 | − | Leg asymmetry, back pain |
I-2 | NAd | − | 160 [25th] | 0 | − | − |
II-1e | 6 | + | 117 [50th] | 5 | + | Wormian bones |
II-2 | 8 | + | 0 | + | Back pain | |
II-3 | 1 | + | 0 | + | Club feet |
Individual designations are from pedigree (Fig. 3b).
Age at clinical evaluation.
Plus sign (+) denotes that the trait was present; minus sign (−) denotes the trait was absent.
NA, not available.
Proband.