A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1

Abstract Spondylometaphyseal dysplasia Algerian type (MIM no.: 184253) is an uncommon autosomal dominant skeletal caused by heterozygous mutations in the COL2A1 gene 120140). In this case based review, we reported a 5-year-old boy with short stature, severe dorsolumbar scoliosis, lumbar hyperlordosis, trunk, and genu valgum. Radiological examination showed platyspondyly, irregular metaphyseal radiolucencies intermingled radiodensities, corner fractures. The patient has c.3275G > A; p.Gly1092Asp mutation exon 47 of variant unknown significance c.1366–13C A intron 21. This latter sequence could partially or completely disrupt natural splice acceptor site 21/exon 22 leading to potential modification phenotypic severity.