Table 1.
Clinical and Radiological Observation in Affected Individuals
| - | P1 | P2 | P3 | P4 |
|---|---|---|---|---|
| RPL13 variant (NM_000977.3) | c.477+1G>T | c.477+2T>C | c.477+1G>A | c.548G>C |
| DNA (RefSeq accession number: NC_000016.9, ref GRCh37.p13) | g.89628800 G>T | g.89628801 T>C | g.89628800 G>A | g.89629362 G>C |
| Protein (RefSeq: NP_000968.2) | p.Asn159_Val160ins18 | p.Asn159_Val160ins18 | p.Asn159_Val160ins18 | p.Arg183Pro |
| ExAC/gnomAD frequency | absent | absent | absent | absent |
| Mode of inheritance | de novo | de novo | de novo | de novo |
| Method of variant detection | ES trio | ES trio | ES trio | ES trio |
| Gender | M | M | M | F |
| Skeletal Findings | ||||
| Prenatal length < 2SD | - | - | - | - |
| Short stature | +++ | +++ | +++ | + |
| Genu varum | + | + | + | + |
| Scoliosis | - | + | - | - |
| Hyperlaxity | - | - | - | - |
| Extraskeletal Findings | ||||
| Cone-rod dystrophy | - | - | - | - |
| Myopia | - | - | - | - |
| Deafness | - | - | - | - |
| Anemia | - | - | - | - |
| Radiological Findings | ||||
| Platyspondyly | + | + | + | + |
| Bowed femora | + | + | ||
| Shortened long bones | + | + | + | + |
| Metaphyseal involvement | + | + | + | + |
| Lower limbs epiphyseal changes | + | + | + | + |
| Upper limbs epiphyseal changes | - | - | + | - |
| Pelvis | ||||
| Coxa vara | + | + | + | + |
| Hands | ||||
| Short phalanges | - | - | - | - |