Table 1.
Clinical and Radiographic in Findings in Subjects with SMD Kozlowski and Metatropic Dysplasia
| Patient |
R03-404 |
R97-261 |
R72-010 |
R07-490 |
R07-474 |
R08-216 |
R03-386 |
R00-067 |
|---|---|---|---|---|---|---|---|---|
| Diagnosis | SMDK | SMDK | SMDK | SMDK | SMDK | SMDK | MD | MD |
| Clinical Findings | ||||||||
| Age of ascertainment | 9 years | 8 years | 3–6 years | 5 years | 2.5 years | 8 months | newborn | newborn |
| High forehead/flat nasal bridge | - | - | - | - | + | + | + | + |
| Hearing loss | - | - | - | - | - | - | - | NA |
| Congenital scoliosis | NA | - | + | - | + | + | + | + |
| Respiratory compromise | - | - | - | - | - | +/mild | + | - |
| Waddling gait | - | - | + | + | - | NA | - | NA |
| Contracture | - | Elbow | - | - | - | - | + | + |
| Prominent joints | - | - | - | - | - | - | + | + |
| Coccygeal tail∗ | - | - | - | - | - | ∗ | - | - |
| Radiographic Findings | ||||||||
| Odontoid hypoplasia | - | NA | NA | - | - | - | + | NA |
| Clavicular pseudoarthrosis | + | - | - | - | - | - | + | - |
| Anterior rib splaying | - | NA | - | - | - | - | + | + |
| Platyspondyly | mild | + | + | + | + | + | + | + |
| Dense wafer vertebrae | - | - | - | - | - | - | + | + |
| Overfaced vertebral pedicles | + | + | + | + | + | +/− | - | - |
| Flared iliac wings | - | mild | mild | + | + | + | - | + |
| Halberd pelvis | - | - | mild | mild | + | + | + | + |
| Flat acetabular roof | - | mild | slanted | mild | - | + | + | - |
| Irregular proximal femoral growth plate | + | + | + | + | - | + | NA | NA |
| Narrow sacroiliac notches | - | + | + | + | + | - | mild | + |
| Dumbbell shaped femora/humeri | - | - | - | - | - | - | + | + |
| Phalangeal cone epiphyses | - | - | - | - | - | - | + | + |
| Brachydactyly | - | NA | - | - | - | mild | + | NA |
| Carpal ossification delay | + | NA | + | + | + | NA | NA | NA |
| Irregular calcanei/tali | - | NA | NA | - | - | - | + | + |
The following abbreviations are used: SMDK, spondylometaphyseal dysplasia, Kozlowski type; MD, metatropic dysplasia; ∗, sacral dimple; NA∗, not applicable because of age or not available; and NA, not applicable or not available.