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Background  Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the  COL2A1 ,  COL11A1 , and  COL11A2  procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a  COL11A1  mutation, has clinical overlap with Stickler syndrome.    Case presentation  A 2-year-old Japanese boy was presented to our hospital with short stature (79.1 cm, −2.52 standard deviation). His past medical history was significant for soft cleft palate and bilateral cataracts. He had a flat midface, micrognathia, and limitations in bilateral elbow flexion. Radiographs showed mild spondyloepiphyseal dysplasia. Initially, we suspected Marshall syndrome, but no mutation was identified in  COL11A1 . At 8 years old, his height was 116.2 cm (−1.89 standard deviation), and his orofacial characteristics appeared unremarkable. We analyzed the  COL2A1  gene and found a novel heterozygous mutation (c.1142 G > A, p.Gly381Asp).    Conclusions  In this case report, we identify a novel missense mutation in the  COL2A1  gene in a patient with Stickler syndrome type 1, and we describe age-related changes in the clinical phenotype with regard to orofacial characteristics and height. Genetic analysis is helpful for the diagnosis of this clinically variable and genetically heterogeneous disorder.

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature