PedAM
Pediatric Disease Annotations & Medicines
| Disease | dwarfism |
| Phenotype | C0041408|turner syndrome |
| Sentences | 10 |
| PubMedID- 23028966 | Mutations or deletions of shox have been identified as the primary cause of several disorders characterized by reduced body height and skeletal deformities including the short stature associated with turner syndrome, léri-weill dyschondrosteosis and langer syndrome [4], [5]. |
| PubMedID- 21619701 | The similarity in scores between the groups suggests that, for girls with turner syndrome, the impact of short stature and its treatment on health-related quality of life as young adults may have been overemphasized. |
| PubMedID- 24904858 | She was diagnosed with turner syndrome (45,x) due to short stature at age 11 years and had received recombinant human growth hormone (rhgh) for about 4 years. |
| PubMedID- 22447617 | Conclusions: skeletal dysplasias and turner syndrome accounted for majority of cases of short stature. |
| PubMedID- 26376624 | For example, the shox gene was identified as the gene responsible for short stature in turner syndrome [2] and leri-weill syndrome [3]. |
| PubMedID- 20683993 | Similarly, when lwd and marked short stature occur in a patient with mosaic turner syndrome, the possibility of mutations in shox and the downstream of shox gene should be considered. |
| PubMedID- 20377888 | Growth hormone is the only available intervention indicated for the treatment of short stature in girls with turner syndrome, a rare (1 in 2000) genetic disorder characterized by reduced life expectancy, absence of puberty, cardiovascular defects and short stature (about 20 cm lower that mean adult height of north american women). |
| PubMedID- 26191082 | turner syndrome is usually associated with short stature, gonadal dysgenesis and variable dysmorphic features. |
| PubMedID- 22157403 | Summary: our understanding and management of short stature in children with turner syndrome and noonan syndrome has greatly advanced over the years. |
| PubMedID- 24689071 | short stature in turner syndrome is the result of shox gene haploinsufficiency (ellison et al. |
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