关键词: 肢端骨溶解；　骨折；　NOTCH2基因；　高通量测序

Abstract: 　Objective　To explore the clinical manifestations and pathogenic gene characteristics of Hajdu-Cheney syndrome (HCS) caused by NOTCH2 gene mutation. Method　The clinical and follow-up data of a boy with HCS were retrospectively analyzed, and the relevant literatures were reviewed. Results　A child, male, 11 years and 8 months old, had abnormal finger terminal development, special face, short stature and compression fracture of the thoracic vertebra after fall. Imaging revealed acroosteolysis and basilar invagination. High-throughput sequencing identified a de novo heterozygous mutation of c.6449_6450delCT (p.Pro2150Argfs*2) in the NOTCH2 gene of the child, which has not been reported. Conclusion Gene detection is helpful for the diagnosis of HCS.

Key words: 　acroosteolysis;　fracture;　NOTCH2 gene;　high-throughput sequencing