Patients and parents in the dyschondrosteosis and idiopathic short stature groups with SHOX anomalies
| Case | Sex | MD | Father | Mother | SHOX anomalies | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| No | Height (SD) | Sample | Height | MD | Sample | Height | MD | |||
| DCS, dyschondrosteosis; ISS, idiopathic short stature; MD, Madelung deformity. | ||||||||||
| DCS group | ||||||||||
| 1 | F | −2.8 | + | + | −1.2 | − | + | −2.9 | + | Complete deletion inherited from mother |
| 2 | F | −2.8 | + | + | −0.8 | + | + | −0.3 | − | Del PAR1 inherited from father |
| 3 | F | −2.2 | + | + | −2.0 | − | + | −0.5 | + | Del PAR1 inherited from mother |
| 4 | F | −2.0 | + | − | −0.8 | − | + | −2.3 | + | Del PAR1 inherited from mother |
| 5 | F | −2.4 | + | − | −0.7 | − | + | −2.3 | + | Del PAR1 inherited from mother |
| 6 | M | −2.0 | + | − | / | − | + | −2.3 | + | Del PAR1 inherited from mother |
| 7 | F | −1.8 | + | + | / | − | + | −2.3 | + | Del PAR1 inherited from mother |
| 8 | F | −1.8 | + | + | −1.2 | + | + | +1.8 | − | Del PAR1 inherited from father |
| 9 | F | −3.5 | + | + | −1.3 | + | + | −1.3 | − | Ex6a:DelA805 codon269 inherited from father |
| 10 | F | −3.0 | + | + | −2.0 | + | + | −0.5 | − | Ex2:E92X inherited from father |
| 11 | F | −2.7 | + | + | −0.8 | − | + | −2.5 | − | Neomutation Ex3:delA380 codon127 |
| 12 | M | −1.8 | + | + | −0.5 | − | + | −2.0 | − | Ex3:G-3.3SDSR inherited from father |
| 13 | F | −3.2 | + | + | −0.8 | − | + | −0.5 | − | Neomutation Ex4:R-1.2SDSW |
| 14 | F | −1.8 | + | − | / | / | + | −1.8 | + | Ex2:Y34X inherited from mother |
| 15 | F | −3.5 | + | + | −1.0 | + | + | −2.9 | − | Ex6a:I276T inherited from father |
| 16 | F | −2.5 | + | + | −0.5 | + | + | −0.5 | / | Complete deletion inherited from father |
| 17 | F | −2.5 | + | + | −0.8 | − | + | +1.3 | − | Complete deletion inherited from father |
| 18 | F | −2.0 | + | + | −1.7 | − | − | −3.3 | − | Complete neodeletion |
| 19 | M | −2.0 | + | + | −0.7 | − | + | −1.3 | − | Complete neodeletion |
| 20 | F | −2.5 | + | + | / | − | + | −2.2 | − | Complete deletion inherited from mother |
| 21 | M | −2.0 | + | + | −1.5 | + | + | +0.3 | − | Complete deletion inherited from father |
| 22 | M | −1.8 | + | + | −3.3 | − | + | −1.2 | − | Complete deletion inherited from father |
| 23 | F | −1.8 | + | + | −3.5 | + | + | −1.2 | − | Complete deletion inherited from father |
| 24 | F | −2.0 | + | + | −0.8 | − | + | −2.4 | + | Complete deletion inherited from mother |
| 25 | F | −1.8 | + | + | −0.3 | − | + | −0.5 | − | Complete neodeletion |
| 26 | F | −1.8 | + | + | +1.3 | − | + | −0.2 | − | Complete neodeletion |
| 27 | F | −3.5 | + | + | +0.5 | − | + | −1.8 | + | Complete deletion inherited from mother |
| 28 | M | −2.0 | + | + | −2.0 | + | + | −2.3 | − | Complete deletion inherited from father |
| 29 | F | −2.0 | + | + | −0.8 | − | + | −2.3 | + | Complete deletion inherited from mother |
| 30 | F | −2.1 | + | − | −2.0 | − | + | −1.8 | + | Complete deletion inherited from mother |
| 31 | F | −3.2 | + | + | −0.7 | − | + | −1.8 | + | Complete deletion inherited from mother |
| 32 | F | −2.6 | + | + | −1.8 | − | + | −2.3 | − | Complete deletion inherited from father |
| 33 | F | −2.0 | + | + | −2.0 | + | + | −1.8 | − | Complete deletion inherited from father |
| 34 | F | −2.2 | + | + | / | − | + | / | − | Complete neodeletion |
| 35 | F | −1.8 | + | − | / | − | + | −1.3 | + | Complete deletion inherited from mother |
| 36 | M | −2.5 | + | − | −2.6 | − | + | −2.3 | + | Complete deletion inherited from mother |
| ISS group | ||||||||||
| 37 | F | −1.8 | − | + | +0.8 | − | + | −0.5 | + | Del PAR1 inherited from mother |
| 38 | M | −1.8 | − | − | / | − | + | −0.5 | − | Del PAR1 inherited from mother |
| 39 | F | −3.2 | − | + | −2.6 | − | + | −3.0 | − | Ex6a:I276T inherited from father |
| 40 | M | −1.8 | − | + | −1.2 | − | + | −2.0 | − | Ex6a:Q215X inherited from father |
| 41 | F | −1.8 | − | + | / | − | + | −0.2 | − | Neomutation: Ex4 W164X |
| 42 | M | −3.0 | − | + | −2.8 | − | + | −0.9 | + | Ex2:T60P inherited from mother |
| 43 | F | −3.5 | − | + | −3.2 | − | + | −2.2 | − | Complete deletion inherited from father |
| 44 | M | −1.8 | − | + | −4.2 | − | + | / | / | Complete deletion inherited from father |
| 45 | F | −1.8 | − | − | −1.2 | − | + | +0.7 | − | Complete deletion inherited from father |
| 46 | F | −2.0 | − | − | −2.3 | − | + | +0.9 | − | Complete deletion inherited from father |
| 47 | F | −3.0 | − | + | +0.3 | − | + | −2.3 | − | Complete neodeletion |
| 48 | M | −1.8 | − | + | +0.5 | − | + | 0.0 | − | Complete neodeletion |
| 49 | F | −2.0 | − | + | −2.0 | − | + | −1.8 | − | Complete deletion inherited from father |
| 50 | F | −2.5 | − | + | +0.5 | − | + | −0.5 | − | Complete neodeletion |
| 51 | M | −2.0 | − | + | −3.7 | + | + | −0.7 | − | Complete deletion inherited from father |
| 52 | M | −2.0 | − | + | −1.3 | + | + | / | − | Complete deletion inherited from father |
| 53 | M | −1.8 | − | + | +1.8 | − | + | −1.2 | + | Complete deletion inherited from mother |
| 54 | F | −1.8 | − | + | −1.7 | − | + | −4.2 | + | Complete deletion inherited from mother |