Osteogenesis imperfecta is a clinically heterogenous disease rab 4ft led fixture caused by defective collagen syntesis associated with a mutation in the COL1A1 or COL1A2 genes.In this report, we present a case of osteogenesis imperfecta (OI) type IV, seen in a female fetus with incurved femurs at 18 weeks of gestation.Molecular analysis of the newborn revealed a novel mutation at position c.560 (c.
560 G T) of the exon 12 in the rb3519 replacement lenses COL1A2 gene; which lead to the glycine modification with valine (p.Gly187Val) at codon 187.The pregnancy follow-up was uneventful.After delivery, the newborn underwent biphosponat therapy and no fracture was detected until 1 year old.