Table I.
Clinical and radiographic phenotype of fibrochondrogenesis cases R09-068A and R10-691A versus other differential diagnoses in the newborn period.
| R09-068A (AR) | R10-691A (AD) | FIB (AR) | OSMED (AR) | OSMED (AD) | KD (AD) | |
|---|---|---|---|---|---|---|
| Midface hypoplasia | +++ | +++ | +++ | ++ | ++ | + |
| Anteverted nares | +++ | +++ | +++ | ++ | ++ | - |
| Frontal bossing | +++ | +++ | +++ | + | + | - |
| Short, cupped ribs | +++ | +++ | +++ | + | - | ++ |
| Platyspondyly | +++ | +++* | +++* | ++ | + | ++ |
| Widened metaphyses | +++ | ++ | +++ | ++ | + | +++ |
| Shortened long bones | +++ | ++ | +++ | + | + | ++ |
| “Bell-shaped” thorax | +++ | +++ | +++ | - | - | - |
| Small ilia with hypoplastic ischia/pubis | + | + | + | - | - | + |
*
Hypoplastic posterior ends of the vertebral bodies. FIB, Fibrochondrogenesis; KD, Kniest dysplasia; OSMED, Otospondylomegaepiphyseal dysplasia; AR, Autosomal recessive; AD, Autosomal dominant; Absent (-); Mild (+); Moderate (++); Severe (+++).