Abstract:Background
Type II collagenopathies are a spectrum of diseases and skeletal dysplasia is one of the prominent features of collagenopathies. Molecular defects of the COL2A1 gene cause type II collagenopathies that is mainly an autosomal dominant disease, whereas some rare cases with autosomal recessive inheritance of mode have also been identified.
Case presentation
The patient was a 5-year-old male with a short neck, flat face, epiphyseal dysplasia… Show more
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