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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. |  |\n| --- | --- |\n| 1 | Introduction | January 10, 2022, with the chief complaint of being shorter in stature compared to his peers. The study protocol was approved |\n| KBGS is a rare autosomal dominant genetic disorder first re- | by the Medical Ethics Committee of Liaocheng People's Hospital |\n| ported by Herrmann et al. [1] in 1975, named after the initials of | in Shandong Province (Approval No.: 2024063), and informed |\n| the surnames of three initial affected families. The main characteristics of this syndrome include macrodontia of the upper | consent was obtained from the patient's guardian. |\n| central incisors, short stature, distinctive facial features, devel- | The child was the firstborn, delivered via cesarean section at |\n| opmental delay or mild/moderate intellectual disability, delayed | 38 weeks and 6 days of gestation, with no history of birth as- |\n| bone age, and epilepsy [2–6] . Growth hormone is applicable for | phyxia or resuscitation. The birth weight was 3.3 kg, and the |\n| children with short stature, growth hormone deficiency, Turner | length was 45 cm. The mother, aged 26, had regular prenatal |\n| syndrome, etc. This article reviews and analyzes the clinical | check-ups. Ultrasound examination at 12–15 weeks of gesta- |\n| data of a child with KBGS who presented with short stature and | tion showed increased nuchal translucency (NT) thickness. |\n| discusses the efficacy and safety of long-acting rhGH treatment. | Noninvasive DNA testing results were normal. Subsequent chorionic villus sampling for chromosomal microarray analysis (CMA), amniocentesis for karyotype analysis, and test- |\n| 2 | Case History | ing for chromosomal aneuploidies and 100 Kb copy number variations (CNVs) revealed no abnormalities. A color Doppler |\n| This report presents a case of a 2-year-and-9-month-old male | ultrasound at 23 weeks of gestation showed increased orbital |\n| child who was admitted to the Department of Pediatrics and Child | distance and absence of the nasal bone. Gross motor devel- |\n| Health at Liaocheng People's Hospital in Shandong Province on | opment was comparable to peers: the child could roll over at |\n| This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.\u003Cbr>© 2026 The Author(s). Clinical Case Reports published by John Wiley & Sons Ltd. |  |\n\nClinical Case Reports, 2026; 14:e71744 1 of 5  \n[https://doi.org/10.1002/ccr3.71744](https://doi.org/10.1002/ccr3.71744)  \nSummary  \n• This report details a KBG syndrome male child (with novel ANKRD11 c. 1591delG mutation) who had short stature. 20-month rhGH therapy effectively improved his height without adverse reactions, suppo","cbCaiuPZTcfzOaMA","https://ap.wps.com/l/cbCaiuPZTcfzOaMA","pdf",1546398,"English","# Introduction\n# Case History\n# Summary","[{\"question\":\"What is the genetic finding in this KBG syndrome case?\",\"answer\":\"The child had a c.1591delG frameshift mutation in the ANKRD11 gene. The variant was previously unreported, expanding the known KBGS mutation spectrum.\"},{\"question\":\"How long was the follow-up after long-acting rhGH therapy?\",\"answer\":\"The report includes 20-month clinical data following long-acting rhGH treatment.\"},{\"question\":\"What were the treatment outcomes and safety observations?\",\"answer\":\"Long-acting rhGH therapy led to significant improvement in the child’s height and showed no adverse reactions in the case report.\"}]","KBG Syndrome - A Case Report and Longitudinal Assessment of Long-Acting Recombinant Human Growth Hormone Therapy | PDF",1790622055,13]