Table 1.
Clinical Features
| Family 1 | Family 2 | Family 3 | Family 4 | Family 5 | Family 6 | Family 7 | SMD Corner-Fracture Type or Sutcliffe Type (from Currarino et al.;3n = 18) | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Individual in pedigree | II-2 (mother) | III-1 (first child) | III-2 (second child) | II-1 | II-1 | III-2 (child) | II-1 | II-1 | II-1 | NA |
| Gender | female | male | male | male | female | female | female | female | female | NA |
| Age at last assessment | 29 years | 13 years | 9 years | 14 years | 3 years, 9 months | 2 years, 1 month | 5 years, 9 months | 16 years, 11 months | 4 years | NA |
| Height (cm) | 147 (−3 SD) | 113 (−5.7 SD) | 107 (−4.6 SD) | 136 (−3.38 SD) | 92 (−2.5 SD) | 83.7 (−0.9 SD) | 97 (−3.3 SD) | 137 (−4.66 SD) | 89 (<3.0 SD) | NA |
| Ovoid vertebral bodies | NA | + | − | − | + | − | + | + | + | 16/18 |
| Scoliosis | + (operated) | + (operated) | + (operated) | + | − | − | + (operated) | + | + | 1/18 |
| Developmental coxa vara | − | − | − | − | − | + | − | + | + | 18/18 |
| Irregular metaphyses | NA | + | + | + | + | + | + | + | + | 16/18 |
| “Corner fractures” | − | + | + | + | + | + | + | + | + | 15/18 |
| Knee anomalies | − | − | genu varum (operated) | − | genu varum | − | genu varum (operated) | − | genu varum | one genu varum, one genum valgum |
| Chest or rib anomaly (e.g., pectus) | pectus carinatum | pectus carinatum | pectus carinatum | − | NA | − | pectus carinatum | − | − | NA |
| Other | hip surgery at 18 years, pregnancy-induced hypertension | born at term, weight 1,673 g (−4.3 SD), length 38 cm (−2.7 SD), hyponatremia at 1 month (unknown cause), hypoplasia of T12 vertebra and triangular S1, back and leg pain | born at term, weight 1,729 g (−3.9 SD), length 39 cm (−2.6 SD), leg pain | facial asymmetry and dysmorphisms (dysplastic left ear), missing teeth 34 and 44 (island of compact bone instead), intradural lipoma and megacisterna magna on MRI | born at 33 weeks, weight 1,754 g | femoral rodding | born at 36 weeks, weight 2,060 g (3rd–10th percentile), length 43.5 cm (3rd–10th percentile), OFC 29.5 cm (3rd percentile), normal renal sonography and kidney function, no signs of proteinuria or microalbuminuria, leg pain | born at 39 weeks, weight 2,280 g (<3rd percentile), length 45 cm (<3rd percentile), OFC 32 (3rd percentile), hip surgery at 2 years (both sides), multiple corrections to right hip and femur, shortening of right leg by 5 cm, bicuspid aortic valve | normal renal function, no proteinuria, no facial asymmetry or dysmorphisms | NA |
The following abbreviations are used: OFC, occipitofrontal circumference; and NA, not available.