Main clinical features of presently described individuals with Pierpont syndrome, including updates of the published patients 1 and 2,1 32 and 43
| Patient | 1 | 2 | 3 | 4 | 5 | 6 | Total |
|---|---|---|---|---|---|---|---|
| Age (years) | 28 | 20 | 12 | 5.7 | 10 | 19 | |
| Gender | M | M | M | M | F | F | 4M/2F |
| Growth parameters at birth* | |||||||
| Length (cm) | 45.7 (<P3) | X | 50.0 (P50) | 48.5 (P10) | 43.0 (<P3) | 51 (P75) | |
| Weight (kg) | 3.0 (P25) | 3.62 (P50) | 2.64 (P10) | 2.95 (P25) | 2.43 (P3) | 2.95 (P25) | |
| OFC (cm) | 35.5 (P75) | X | 33.8 (P25) | 32.0 (P5) | 28.0 (<P3) | 33 (P25) | |
| Growth parameters at age (years) | 27 | 18 | 12 | 5.7 | 10 | 18 | |
| Height (cm) | 147 (<P3) | 147 (<P3) | 128 (<P3) | 100 (<P3) | 109 (<P3) | 144 (<P3) | |
| Weight (kg) | 36 (<P3) | 58 (P10) | 30 (P5) | 18 (P25) | 22 (<P3) | 40 (<P3) | |
| OFC (cm) | 53.5 (P10) | 44 (<P3) | 54 (P50) | 45.7 (<P3) | 43 (<P3) | 56 (P97) | |
| Intellectual disability† | ++ | + | ++ | ++ | ++ | +++ | 6/6 |
| Hypotonia | + | + | + | ++ | + | + | 6/6 |
| Brain imaging | − | − | A | EV, CP | A, EV | A | 4/6 |
| High anterior hairline | + | + | + | + | + | + | 6/6 |
| Narrow palpebral fissures | + | + | + | − | + | + | 5/6 |
| Microcornea‡ | − | + | − | − | + | + | 3/6 |
| Flat malae | + | + | + | + | + | + | 6/6 |
| Broad nasal ridge and tip | + | + | + | + | + | + | 6/6 |
| Smooth philtrum/thin vermillion | + | + | + | + | + | + | 6/6 |
| Teeth | WS, AE | WS | WS | WS, AE | WS, AE | WS, AS | 6/6 |
| Large ears | + | + | + | + | + | + | 6/6 |
| Hearing loss§ | + | + | + | + | + | − | 5/5 |
| Scoliosis | + | ++ | + | − | ++ | + | 5/6 |
| Short fingers/toes | + | + | + | + | + | + | 6/6 |
| Palmar/plantar grooves, pillowing | + | + | + | + | + | + | 6/6 |
| Marked foetal finger/toe pads | + | + | + | + | + | + | 6/6 |
| Subcalcaneal fat pads | + | + | + | + | + | + | 6/6 |
*Centiles between brackets.
†+IQ 50–60 ++IQ 35–50 +++IQ <35 (IQ data from publications,1–3 formal testing in patient 5, and estimated in patient 6).
‡Cornea diameter<10.0 mm.
§Hearing loss was evaluated by audiometry.
+, abnormality present; −, abnormality not present; A, central atrophy; AE, abnormal dental eruption; CP, choroid plexus papilloma; EV, enlarged ventricles; OFC, occipital frontal circumference; WS, widely spaced; X, no data available.