| Number of patients |
10 |
25 |
4 |
| OFC (cm)*
|
−5.4 to −11 SD |
+1.7 to −5.0 SD |
−10 to −12 SD |
| Height (cm)*
|
−4.5 to −9.6 SD |
−0.4 to −6.4 SD |
−5 to −8 SD |
| Weight (kg)*
|
0.8 to −11 SD |
−0.3 to −9.9 SD |
−3.3 to −8 SD |
| Intellectual disability |
Ranges from none to mild/moderate |
None |
Developmental delay (2/4) |
| Facial Features |
Small and abnormal ears (9/10), micrognathia (5/10), down slanted palpebral fissures (1/10) |
Small and abnormal ears(25/25), micrognathia (20/25), down slanted palpebral fissures (8/25) |
Small and/or abnormal ears (4/4), micrognathia (4/4), receding forehead (4/4), prominent nose (4/4), short palpebral fissures (2/4) |
| Skeletal abnormalities |
Delayed bone age (3/10), Slender long bones (2/10) , absent patellae (6/10), genu recurvatum (4/10) |
Delayed bone age (11/25), slender long bones, absent patellae (24/25) |
Delayed bone age (1/4), 5th finger clinodactyly (2/4), symmetric dwarfism (3/4), small/abnormal patellae (2/4), kyphosis (1/4), hip abnormality (2/4), narrow pelvis (iliac blades) (1/4) |
| MRI |
Normal in 2 patients examined |
NA |
Generalised cerebral atrophy, delayed myelination, abnormal gyration (2 patients examined) |
| Other |
High pitched voice (1/10), full lips (7/10), cryptochordism (2/4 examined), mammary hypoplasia (2/2 examined), feeding and respiratory problems during infancy (8/10) |
Full lips (14/25), cryptochordism (7/14 examined), mammary hypoplasia (8/8 examined), feeding (20/25) and respiratory (9/25) problems during infancy |
Dental crowding (4/4), feeding and respiratory problems during infancy (1/4) |
