Phenotypic features in affected HGPS family members
| Patient ID | IV:7 | IV:6 | IV:4 | IV:3 |
|---|---|---|---|---|
| Number of “+” denotes degree of severity (also see fig 2). | ||||
| *Denotes below the third percentile, with z-score in parentheses (Indian population). | ||||
| Sex | Male | Female | Male | Female |
| Age at presentation (years) | 4½ | 10 | 15 | 17 |
| Weight (kg) | 10.5* (−6.6 SD) | 8* (−11 SD) | 13* (−11.8 SD) | 13* (−18 SD) |
| Height (cm) | 96* (−3 SD) | 95* (−7.7 SD) | 124* (−5.1 SD) | 120* (−12 SD) |
| Body mass index (kg/cm2) | 11.4* (−2.4 SD) | 8.8* (−6 SD) | 8.5* (−10 SD) | 9* (−7.3 SD) |
| Alopecia | + | ++ | ++ | ++ |
| Eyebrows and eyelashes | Present | Absent | Absent | Absent |
| Scleroderma-like skin atrophy | + | ++ | ++ | ++ |
| Mottled pigmentation of the skin | Present | Present | Present | Present |
| Generalised lipodystrophy | + | ++ | ++ | ++ |
| Sexual maturation | Prepubertal | Absent | Impaired | Absent |
| Prominent eyes/proptosis | ++ | +++ | ++ | ++ |
| Pinched nose/beaked profile | + | ++ | ++ | ++ |
| Open fontanelles | Present | Present | Present | Present |
| Micrognathia | + | ++ | ++ | ++ |
| Crowded teeth | Milk teeth | Present | Present | Present |
| Clavicules | Hypoplastic | Absent | Absent | Absent |
| Acro-osteolysis | + | ++ | ++ | +++ |
| Joint stiffness/arthritis | + | ++ | ++ | ++ |