Table 1
Clinical and radiographic features of the four patients and the case reported by Hoeffel et al12
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Case of Hoeffel et al12 | |
|---|---|---|---|---|---|
| OFC: occipitofrontal (head) circumference; P: pectus; CSE: cone shaped epiphyses; d/m/p phal: distal/middle/proximal phalanges; metacarp: metacarpals; fem/tib: femoral/tibial; H/U/R: humerus/ulna/radius; epiph: epiphysis; N: normal. | |||||
| Stature (age) | – 3.5 SD (9.5 years) | – 2.3 SD (9.5 years) | – 3 SD (7 years) | – 7.6 SD (9 years) | – 7 SD (12 years) |
| OFC | 3th–50th centile | 50th–75th centile | 90th centile | >98th centile | ? |
| Short limbs | + | + | ++ | +++ | +++ |
| Brachydactyly | Yes | Yes | Yes | Yes | Yes |
| Deformities | No | No | No | Genu varum | Genu varum |
| Thorax | Narrow | Normal | P excavatum | P carinatum | ? |
| Hands (age) | (at 9.5 y) | (at 9.5 y) | (at 3 8/12 y) | (at 11 y) | (at 12 y) |
| CSE in thumbs | Yes | Yes | Yes | Yes | ? |
| CSE in m & d phal | Yes | Yes | Yes | Yes | Yes |
| CSE in p phal | No | No | Yes | Yes | No |
| CSE in metacarp | No (thumb only) | No (thumb only) | Yes | Yes | Yes |
| Carpal bone age | Retarded | Retarded | Retarded | Retarded | Retarded |
| Pelvis (age) | (at 9.5 y) | (at 9.5 y) | (at 3 8/12 y) | (at 10 y) | (at 8 y) |
| Iliac wings | N | N | Short, flared | Short, flared | N |
| Acetabular roofs | N | N | Flat, wide | N | Oblique |
| Coxa vara | No | Yes | Yes | Yes | Yes |
| Prox fem physis | Fused | Fused | Fused | Fused | Fused |
| Femoral head | Egg shaped | Egg shaped | Egg shaped | Egg shaped | Egg shaped |
| Femoral neck | Short | Short | Short | Short | Short |
| Femoral “collar” | Yes | Yes | Yes | Yes | Yes |
| Upper limbs | (at 9.5 y) | (at 9.5 y) | (at 7 y) | (at 9¼ y) | (at 8 y) |
| Humeral head | N | N | Varus deformity | CSE | Varus deformity |
| Shortening H/U/R | + | + | ++ | +++ | ? |
| Lower limbs | (at 9.5 y) | (at 11 y) | (at 5 y) | (at 11 y) | (at 12 y) |
| Dist fem epiph | Large | Large | Large | Large | ? |
| Prox tib epiph | Reduced width | Reduced width | Reduced width | CSE | CSE |
| Dist tib physis | Early closure | Early closure | CSE | CSE | CSE |
| Prox part fibula | Mild overgrowth | Mild overgrowth | Overgrowth | Overgrowth | Overgrowth |
| Short tibia | + | + | ++ | +++ | ++ |
| Tibia vara | No | No | Yes | Yes | Yes |
