• HaoZheng Zhang, Xuening Guo, Chun Yang, Kaihui Zhang, Dong Wang, Juan Wang, Yi Liu, Lili Kang, Qinghua Liu, and Xiaoying Li.
• Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.
• Medicine (Baltimore). 2023 Oct 6; 102 (40): e35449e35449.

RationaleKBG syndrome (KBGS, OMIM: 148050), a rare genetic disorder, is clinically characterized by megalodontia, short stature, skeletal abnormalities, and nervous system manifestations. In the study, we explore the clinical and genetic characteristics of one neonate suffering KBGS caused by ANKRD11 gene mutation.Patient ConcernsThe proband, a female, was born prematurely at 31 + 2 weeks. There were repeated infections and abdominal distension in the first month after birth, and the platelets could not rise to normal. Head ultrasound showed intracranial brain injury and intracranial hemorrhage.DiagnosesSequencing revealed that there was a heterozygous mutation in exon 9 of the ANKRD11 gene (NM_013275.5) for the child, c.1896_1897delTA (p.H632Qfs*30), which was a de novo mutation and has not been reported. Combining clinical features and genetic results, the proband was diagnosed as KBGS.Interventions And OutcomesThe brain sonography on day 4 after birth showed brain injury and intracranial hemorrhage. Therefore, 140 mg of bovine lung surfactant was administered through endotracheal intubation in addition to ventilator-assisted ventilation. Antibiotic treatment was also given till the inflammatory indicators of the infant returned to normal levels. The following-up of 1-year-6-month showed that the language, motion and height of development is slight falling behind the children of the same age.LessonsThis is the first case of KBGS was diagnosed in the neonatal period, which provides a reference for the child to receive timely and correct treatment.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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