目的 探讨1 例罕见的矮小症伴多系统异常病例的临床和实验室诊断。方法 采用全外显子组测序技术，结合高通量数据分析流程进行基因检测，并采用Sanger 测序进行验证。结果 患儿，男，14 岁，发现身材矮小5 年余。身高132 cm，有面部色素沉着斑点和甲癣。外翻足已手术矫正，因自身免疫性溶血性贫血长期口服泼尼松治疗。头颅CT示两侧基底节、两侧额叶及左侧顶叶多发性钙化。脊柱平片示胸腰椎椎体变扁。全外显子组测序结合Sanger 测序验证，发现ACP5 基因纯合致病突变（c. 643 G > A, p.G 215R），确诊为罕见的椎体软骨发育不良伴免疫调节异常（SPENCDI）。结论 全外显子组测序是确诊疑难罕见病的有效方法之一。

Objective To investigate the clinical and laboratory diagnosis in a rare case with dwarfism and multisystem abnormalities. Methods Whole-exome sequencing was performed and data was processed using high-throughput data analysis pipeline. Genetic test result is verified by Sanger sequencing. Results This is a 14 -year-old boy with short stature (the height is 132 cm) and autoimmune hemolytic anemia. He was treated with long-term oral prednisone. Head CT from other hospital found multiple calcifications on both sides of the basal ganglia, two sides of the frontal lobe, and the left side of parietal lobe. Lateral spinal X-ray photography showed flat in thoracolumbar vertebral body. Valgus was surgically corrected. He also has facial pigmentation spot and onychomycosis. Whole-exome sequencing combined with Sanger sequencing identified a known homozygous pathogenic mutation in ACP5 genes (c. 643 G>A, p.G 215 R). Identification of such a mutation results in the diagnosis of spondylo enchondrody splasia with immune dysregulation (SPENCDI). Conclusions Wholeexome sequencing is one of the effective methods for detection of rare disease, the SPENCDI case reported here is a good example of it.