Musculoskeletal abnormalities
| Musculoskeletal abnormality | Frequency | Reference |
|---|---|---|
| *Barrel shaped thorax, bell shaped thorax, narrow chest, pectus excavatum, funnel chest. | ||
| †Wide or separated symphysis pubis, diaphysis of pubic bones, small or absent pubis, cleft of pubic bones. | ||
| Absence or hypoplasia of orbital or skull bones | 12 (10.2%) | 3, 5, 36, 37, 42, 45, 48, 52, 57, 61, 65, 69 |
| Defects in skull ossification (parietal and occipital bones) | 8 (6.8%) | 4,10,11,17,16 (two cases),18,43 |
| Wide sutures or fontanelles | 5 (4.3%) | 4 (three cases),11,16 |
| Abnormalities of chest shape* | 6 (5.1%) | 4 (two cases),16,17,21,56 |
| Abnormal symphysis pubis† | 9 (7.7%) | 3,4 (three cases),9,16 (two cases),24,54 |
| Talipes unspecified or talipes equinovarus | 10 (8.5%) | 4,12,16 (two cases),19 (two cases),28,34,50,51 |
| Contractures of large joints | 5 (4.3%) | 4,11,34,50 (two cases) |
| Craniosynostosis | 4 | |
| Parietofrontal depression | 15 | |
| Abnormal thoracic spine | 16 | |
| Thoracic kyphoscoliosis | 16, 61 | |
| Lumbar lordosis | 61 | |
| Sacral dimple | 50 | |
| Deficient right clavicle | 16 | |
| Hypoplastic or absent 12th ribs | 16, 56 | |
| Supernumerary ribs | 16 | |
| Talipes valgus | 39 | |
| Talipes calcaneovalgus | 11 | |
| Rockerbottom feet | 4 (two cases) | |
| Tibial bowing | 4 | |
| Bowing of the limb bones | 58 | |
| Bilateral genu recurvatum | 39 | |
| Micromelia of all limbs | 4 | |