Objective To investigate the clinical phenotype and genotype characteristics of a child with Legg-Calvé-Perthes disease(LCPD)caused by a COL2A1 gene mutation.Methods A retrospective analysis of the clinical data of a child diagnosed with LCPD due to short stature was conducted,along with a review of relevant literature.Results The patient,a male,presented at the age of 10 years and 10 months with short stature,distinctive facial features,scoliosis,and femoral head necrosis as the main clinical manifestations.Genetic analysis confirmed the presence of a heterozygous c.1699G＞A(p.G567S)mutation in the COL2A1 gene.Conclusion Heterozygous mutations in COL2A1 gene can lead to a spectrum of type Ⅱ col-lagenopathies(COL Ⅱ)with varying severity.LCPD,characterized by recurrent fractures,bone collapse,skeletal repair,and remodeling,represents a relatively milder phenotype and is extremely rare in East Asian populations.This case study explores a rare instance of LCPD caused by a COL2A1 mutation,contributing to a better understanding of the genotype-phenotype correlation of the COL2A1 gene.
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