Clinical data for patients 1–4
| 1 | 2 | 3 | 4 | |
| Gender | Male | Male | Female | Female |
| Age | 14 y | 14 y | 7 m | 31 y |
| Pregnancy | ||||
| History of infertility/assisted reproduction | NK | No | No | NK |
| Placental abnormality | NK | ‘Poor condition’ | No | NK |
| Growth | ||||
| Birth weight (weeks gestation) | 2.1 kg (0.4th–2nd) (38/40) | 1.95 kg (0.4th) (38/40) | 1.48 kg (0.4th–2nd) (35/40) | 1.25 kg (<<0.4th) (40/40) |
| Height (age) | 84 cm (<0.4th) (3 y) 163 cm (50th–75th) (14 y) | 60 cm (<<0.4th) (7.5 m) 102 cm (2nd–9th) (4 y10 m) | 41.2 cm (<<0.4th) (7 wk) 52 cm (<<0.4th) (6 m) | 145 cm (<<0.4th) (31 y) |
| Relative macrocephaly (age) | 33.5 cm (25th–50th) (birth) | 47.5 cm (91st–98th) (7.5 m) | 36 cm (50th–75th) (7 wk) | NK |
| Congenital abnormalities | ||||
| Male genital anomaly | Cryptorchidism, inguinal hernia | No | NA | NA |
| Skeletal abnormality | Delayed bone age at 14 y | No | No | No |
| Other problems | ||||
| Psychomotor/speech delay | No | No | No | No |
| Excessive sweating | No | Yes | No | No |
| Hypoglycaemia | No | In infancy | No | No |
| Feeding difficulties | Yes | Yes | Yes | No |
| Gastrointestinal reflux | No | Yes | No | No |
| Craniofacial features | ||||
| Triangular face | Yes | Yes | Yes | No |
| Frontal bossing | Yes | Yes | Yes | No |
| Micro/retrognathia | Yes | No | No | No |
| Irregular/crowded teeth | NK | No | NA | No |
| Small teeth | NK | Yes | NA | No |
| Downturned corners of mouth | Yes | Yes | Yes | No |
| Thin upper lip | Yes | No | No | No |
| Low set/posteriorly rotated ears | Yes | low set | Yes | No |
| Epicanthus | Yes | NK | NK | No |
| Other clinical signs | ||||
| 5th finger clinodactyly | Yes | Yes | Yes | No |
| Camptodactyly | No | No | No | No |
| Joint contractures | No | No | No | No |
| Café au lait patches | No | No | No | No |
| Other | Multiple haemangiomata | Atypical diabetes | ||
| Lactation failure | ||||
m, months; NA, not applicable; NK, not known; wk, weeks; y, years.