目的　分析Kenny-Caffey综合征2型的临床表现、基因突变特点及诊治进展。方法　回顾分析1例确诊为 Kenny-Caffey综合征2型患儿的临床资料及基因检测结果，并复习相关文献。结果　男性患儿， 8个月，自2月龄起反复 发作抽搐，生长发育迟缓。实验室检查提示低钙血症、低镁血症、高磷血症、低甲状旁腺激素及肝酶增高。X线显示长骨 皮质增厚、髓质狭窄。全基因组外显子DNA测序提示FAM111A基因，c.1706G>A，p.Arg569His，杂合突变（新生突变）。 共检索到已报道因FAM111A基因所致Kenny-Caffey综合征2型患者17例，该患儿临床特征与已报道病例基本相符。结 论　FAM111A基因突变引起的Kenny-Caffey综合征2型相当罕见，婴幼儿时期可出现甲状旁腺功能减退及长骨改变等， 遗传学检测有利于明确病因。

Objective　To analyze the clinical features, gene mutations and treatment of rare Kenny-Caffey syndrome type 2. Methods　Clinical and laboratory data and gene detection results from a child with Kenny-Caffey syndrome type 2 were retrospectively analyzed. The related literatures were reviewed. Results　The 8-month old boy presented with recurrent seizures and developmental delay. Laboratory tests suggested hypocalcemia, hypomagnesemia, hyperphosphatemia, low parathyroid hormone and increased liver enzymes. X-ray examination showed long bones with reduced medullary space and cortical thickening. Whole exome sequencing identified a de novo heterozygous mutation of c.1706G>A, p.Arg569His in FAM111A gene. A total of 17 cases of Kenny-Caffey syndrome caused by FAM111A gene mutation were reported in the literature searched, the clinical features are consistent with our patient. Conclusions　Kenny-Caffey syndrome type 2 caused by FAM111A gene mutation is very rare, and genetic testing is helpful for the molecular diagnosis.