摘要本文报道1例矮妖精貌综合征新生儿的诊治经过及短期随访结局。患儿男，11 d，存在明显的胰岛素抵抗（难以控制的高血糖）及特殊面容（头发多而密集、眼距宽和双耳大等）。全外显子组测序发现患儿存在胰岛素受体基因内含子17：c.3258+4A>G及外显子6：c.1321T>A（p.W441R）复合杂合变异，Sanger测序验证分别遗传自父亲和母亲，为可能致病变异。结合临床表现及基因检测结果诊断矮妖精貌综合征可能性大。随访至9月龄，患儿身长发育落后，随机血糖18 mmol/L，有间断低热。

abstractsThis article reported the comprehensive management and short-term follow-up of a neonate diagnosed with Donohue syndrome. The affected male neonate presented with obvious insulin resistance (uncontrollable hyperglycemia) and unusual facies (more hair and dense, wide eye distance, large ears, etc.). Whole exome sequencing revealed a compound heterozygous variant in the insulin receptor gene [c.3258+4A>G in intron 17 and c.1321T>A (p.W441R) in exon 6], and Sanger sequencing confirmed that the mutation was inherited from both parents, which is likely pathogenic mutation. Based on the genetic test results and clinical manifestation, the neonate had a high probability of being diagnosed with Donohue syndrome. During a follow-up of nine months, the baby showed growth and development retardation, intermittent low-grade fever, and the fasting glucose was around 18 mmol/L.