Li M M, Zhang Z Z, Wang S Q, Wang X, Hu J Q, Wang M Q, Wei H Y, Chen Y X
Department of Endocrinology and Inborn Error of Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450053, China.
Zhonghua Er Ke Za Zhi. 2025 Jul 2;63(7):794-797. doi: 10.3760/cma.j.cn112140-20250206-00095.
To analyze the genetic characteristics of clinical manifestations in children with KBG syndrome due to microdeletions. A retrospective case summary was conducted. Four children diagnosed with KBG syndrome due to 16q24.3 microdeletion at Children's Hospital of Zhengzhou University from July 2021 to April 2024 were enrolled.Their clinical manifestations, biochemical parameters, imaging data, whole-exome sequencing results, treatments and follow-up outcomes were reviewed. The cohort included two males and two females (diagnosed at 81, 18, 26, and 56 months of age, respectively), from four unrelated families. All patients exhibited peculiar facial features (Cupid's bowed-shaped lips, prominent ears, thick eyebrows), skeletal abnormalities (brachydactyly, abnormal ribs, short stature, etc.), ocular anomalies (astigmatism, strabismus, amblyopia, etc.), intrauterine growth restriction, and developmental retardation. Case 2, 3, 4 had cranial imaging abnormalities, including thin anterior pituitary lobes with pineal cyst, left ventricular cyst, and abnormal pituitary stalk or lateral ventricles with sinusitis, respectively. Two children had intellectual disability, two had congenital heart disease, and one had delayed bone age and hair abnormalities. Whole exome genomic sequencing confirmed 16q24.3 microdeletions encompassing ANKRD11 gene in all four cases. Two children treated with recombinant human growth hormone achieved height increments of 1.5 and 0.4 , respectively. Typical features of 16q24.3 microdeletion-induced KBG syndrome include peculiar facial features, macrodontia, skeletal anomalies, neurological abnormalities, and ocular defects. Genetic testing is essential for definitive diagnosis. The treatment of KBG syndrome requires early diagnosis and multidisciplinary collaboration to implement individualized treatment for multisystem symptoms.
分析因微缺失导致的KBG综合征患儿临床表现的遗传特征。进行回顾性病例总结。纳入2021年7月至2024年4月在郑州大学儿童医院诊断为因16q24.3微缺失导致的KBG综合征的4例患儿。回顾他们的临床表现、生化参数、影像学数据、全外显子测序结果、治疗及随访结局。该队列包括2名男性和2名女性（分别在81、18、26和56月龄时确诊），来自4个无血缘关系的家庭。所有患者均表现出特殊面容（丘比特弓形唇、招风耳、浓眉）、骨骼异常（短指畸形、肋骨异常、身材矮小等）、眼部异常（散光、斜视、弱视等）、宫内生长受限和发育迟缓。病例2、3、4有头颅影像学异常，分别为垂体前叶薄伴松果体囊肿、左心室囊肿、垂体柄异常或侧脑室伴鼻窦炎。2名儿童有智力障碍，2名有先天性心脏病，1名有骨龄延迟和毛发异常。全外显子基因组测序证实4例患者均存在包含ANKRD11基因的16q24.3微缺失。2名接受重组人生长激素治疗的儿童身高分别增加了1.5和0.4 。16q24.3微缺失所致KBG综合征的典型特征包括特殊面容、巨牙症、骨骼异常、神经异常和眼部缺陷。基因检测对明确诊断至关重要。KBG综合征的治疗需要早期诊断和多学科协作，以针对多系统症状实施个体化治疗。
