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Abstract：
We report here the clinical diagnosis and treatment and genetic mutations of an infant with You-Hoover-Fong syndrome (YHFS). The relevant literature review was conducted. A female infant aged 17 months was admitted to Nanhai Affiliated Maternity and Children\'s Hospital of Guangzhou University of Chinese Medicine due to \"global development delay complicated with postnatal growth retardation for more than 1 year.\" The infant was diagnosed with YHFS due to the onset of extremely severe mental retardation, microcephaly, abnormal hearing, severe protein-energy malnutrition, congenital cataract, cleft palate (I°), congenital atrial septal defect, brain atrophy, hydrocephalus, and brain hypoplasia. The whole exon sequencing revealed two compound heterozygous mutations, including a likely pathogenic TELO2 variant, c.2245A > T (p.K749X) from her mother and an uncertain variant, c.2299C > T (p.R767C) from her father, validated by Sanger sequencing. After bilateral cataract surgery, the infant obtained better visual acuity and showed more responses and interactions with her parents. Diagnosis and treatment of this case prompt that these TELO2 variants have not been reported, deepening the understanding of the molecular and genetic mechanism of YHFS in clinical practice.
摘要：
我们在此报告患有You-Hoover-Fong综合征（YHFS）的婴儿的临床诊断和治疗以及基因突变。进行了相关文献综述。一名17个月的女婴因全球发育迟缓并发产后发育迟缓超过1年而被广州中医药大学南海附属妇幼医院收治。\“由于极度严重的智力低下，婴儿被诊断出患有YHFS，小头畸形,听力异常,严重的蛋白质能量营养不良，先天性白内障,腭裂(I°),先天性房间隔缺损,脑萎缩,脑积水,大脑发育不全.整个外显子测序显示两个复合杂合突变，包括可能的致病性TELO2变异体,c.225A>T（p。K749X)来自她的母亲和一个不确定的变体，c.2299C>T（p。R767C）来自她父亲，通过Sanger测序验证。双侧白内障手术后，婴儿获得了更好的视力，并表现出更多的反应和与父母的互动。这种情况的诊断和治疗提示这些TELO2变异尚未被报道，在临床实践中加深对YHFS分子和遗传机制的理解。
