Growth hormone therapy for children with KBG syndrome: A case report and review of literature

Figure 1 Electropherograms of the patient and her parents. A de novo heterozygous single base pair duplication at position 2635 (c.2635 dupG) in the ANKRD11 gene was found in the patient, and was not inherited from her parents.

Figure 2 Changes of height and weight in our patient with KBG syndrome during 2 years of growth hormone therapy. GH: Growth hormone.

Figure 3 Changes of height SDS of children with KBG syndrome accompanied by short stature in the reported literature and in our study. There were nine children with KBG syndrome accompanied by short stature who received growth hormone (GH) therapy (P1-P4 and P6-10) (black circle). Patient 5 showed no response to GH therapy without specific data of height velocity were not included in the figure. There were three children with KBG syndrome accompanied by short stature who did not receive GH therapy(P11, P12, and P13) (white circle). We mainly recorded growth velocity in the first year of GH therapy. Patient 3 was followed by 9 mo, Patient 13 was followed by 8 mo, and three patients (P4, P9, and P10) did not show specific follow-up time. GH: Growth hormone; NA: Not applicable; P: Patient.