Abstract: Objective To make literature review and case analysis on the current status and progress of Wolf-Hirschhorn syndrome(WHS), in order to provide the basis for clinical diagnosis and treatment. Methods A case of a child diagnosed with WHS in Children Healthcare outpatientand with main manifestation of growth retardation was used. The WHS was discussed in terms of genetic patterns, clinical phenotype and genotype, diagnostic techniques and so on. Results The occurrence of WHS was associated with multiple genes. The loss of a single gene can not accurately explain the cause of the disease. Its clinical phenotype was complex, physical and mental retardation was one of the common clinical manifestations. Chromosomal microarray analysis (CMA) technique was the first choice for the diagnosis of this disease. Conclusion Clinicians need to find out the clinical features of disease through detailed disease history and physical examination, and to use cytogenetic detection technology appropriately to study the pathogenesis and genetic characteristics of WHS in order to provide basis for clinical treatment and prognosis.

Key words: Wolf-Hirschhorn syndrome, clinical manifestations, genetic characteristics, gene diagnosis, prognosis

摘要： 目的 通过对以生长发育迟缓为主要表现的Wolf-Hirschhorn综合征(WHS)进行文献复习及病例分析,研究其现状及进展,以期为临床诊断及治疗提供依据。方法 以儿保科门诊确诊的1例以生长发育迟缓为表现的WHS患儿为例,从遗传方式、临床表型与基因型的关系、诊断技术等方面对WHS进行探讨。结果 WHS的发生与多个基因相关, 单个基因的突变无法准确地解释病因,其临床表型复杂,体格及智力发育落后是常见的临床表现之一。 染色体微阵列分析(CMA)技术是目前诊断此病的首选检测方法。结论 临床医生需通过详细询问病史及体格检查发现疾病临床特点,运用恰当的细胞遗传学检测技术,对WHS的发病机制及遗传特点进行深入研究,为临床治疗及预后提供依据。

关键词: Wolf-Hirschhorn综合征, 临床表现, 遗传特点, 基因诊断, 预后