Clinical, radiographic, and morphological features of two patients with the G943S mutation in the COL2A1 gene
| R86-153 | Godfrey et al,25 26 Vissing et al9 | |
| Clinical | ||
| Sex | Female | Female |
| Birth length (gestational age) | 29 cm (35 wk) | 28 cm (32–33 wk) |
| Short limbs | Yes | Yes |
| Small thorax | Yes | Yes |
| Cleft palate | Yes | Yes |
| Respiratory insufficiency | Yes | Yes |
| Age at death | 6 h | 12 h |
| Radiographic | ||
| Long bones | Marked shortening with metaphyseal irregularities | Marked shortening with metaphyseal irregularities |
| Pelvis | Small and flared iliac wings | Small and flared iliac wings |
| Spine | Only reasonable ossification in the thoracolumbar spine | Only reasonable ossification in the thoracic spine |
| Thorax | Small with short ribs | Small with short ribs |
| Ossification of pubic bones | No | No |
| Ossification of ischia | Yes | No |
| Ossification of talus and calcaneus | No | No |
| Morphological | ||
| Resting cartilage | Very hypervascular | Increase in vascularity |
| Chondrocytes | Inclusion bodies | Dilated RER (EM) |
| Growth plate | Very irregular with hypertrophic cells extending into the metaphysis | Irregular with hypertrophic cells extending into the metaphysis |