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Homozygous mutation of the short stature homeobox-containing gene, SHOX, results in Langer mesomelic dysplasia (LMD). Our case presented with severe short stature and skeletal deformities with Turner syndrome (TS) and a SHOX gene abnormality due to a downstream allele deletion in her normal X chromosome. Medical literature review did not reveal similar cases that were treated with GH therapy.

the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism

Effect of Growth Hormone Therapy on Severe Short Stature and Skeletal Deformities in a Patient with Combined Turner Syndrome and Langer Mesomelic Dysplasia