Abstract
This case analysis examines the clinical data, molecular genetic testing results, and 20-month clinical data of long-acting recombinant human growth hormone (rhGH) treatment in a child with KBG syndrome (KBGS). The child exhibited a c.1591delG frameshift mutation in the ANKRD11 gene associated with KBGS, a variant not previously reported, thereby enriching the genetic mutation spectrum of KBGS. Following treatment with long-acting rhGH, the child showed significant improvement in height without adverse reactions.