Table 2.
Clinical and genetic features of children with partial or complete SHOX duplication and short stature
| Authors | Sex | Age, years | Phenotype | Height, SD | Madelung deformity | Genotype | Notes |
|---|---|---|---|---|---|---|---|
| Iughetti et al. [2010] | M | 13.9 | ISS | −3.25 | no | complete SHOX-3’ region | normal birth weight, parents with normal height |
| D'haene et al. [2010] | – | – | ISS | – | – | – | – |
| Benito-Sanz et al. [2011] | F | 13.0 | ISS | −2.57 | no | 5' region-complete SHOX-3’ region | slightly shortened neck |
| F | adult | ISS | −2.19 | no | 5' region-complete SHOX | – | |
| F | 13.8 | ISS | −2.29 | no | 5' region-complete SHOX | – | |
| F | 6.7 | ISS | −2,01 | no | 5' region-partial SHOX (5'-Ex3) | dermatitis atopica | |
| M | 13.0 | LWD | −2.25 | yes | 5' region-partial SHOX (5'-Ex3) | – | |
| M | 10.7 | LWD | −1.80 | yes | partial SHOX (Ex2–6b) | – | |
| M | 15.5 | LWD | −3.88 | yes | partial SHOX (Ex2–6a) | – | |
| F | 5.0 | LWD | −4.13 | yes | partial SHOX (Ex2–6a) | – | |
| F | 13.0 | LWD | −2.24 | yes | partial SHOX (Ex2–6a) | pyloric stenosis, urethral reflux | |
| M | 10.0 | LWD | −2.06 | yes | partial SHOX (Ex2–6a) | – | |
| F | 13.5 | LWD | −3.95 | yes | partial SHOX (Ex2–6a) | – | |
| F | 7.5 | LWD | −1.88 | no | partial SHOX (Ex2–6a) | precocious puberty (menarche 8 years) | |
| F | 14.0 | ISS | −2.40 | no | partial SHOX–3' region (Ex4-3') | SGA, premature adrenarche | |
| F | adult | ISS | −2.10 | no | 5' region | mental retardation, dysmorphic facies | |
| Present case | M | 9.5 | ISS | −2.70 | no | 5' region-complete SHOX | referred normal birth weight, first case treated with GH |
ISS = Isolated short stature; SGA = small for gestational age.