Abstract Osteogenesis imperfecta (OI) Type XV is an autosomal recessive (AR) form of OI, characterized not only by bone fragility, low bone mass and recurrent fractures but also by developmental delays and brain anomalies. The disease severity ranges from a mild disease form with no fractures, to more severe forms with intra-uterine fractures and perinatal deaths. We present five cases of OI type XV (two of whom are siblings), with varied phenotypic presentations in spite of the same genetic defect in all the cases. While all the patients had sustained multiple fractures, one of the cases in addition had an intrauterine fracture and another had sustained multiple joint dislocations as well. While all the cases had short stature, three patients had blue sclera, and none had dentinogenesis imperfecta. Like all other types of OI, the bone fragility and hence recurrent fractures, deformities and short stature are common here as well, but the spectrum of severity seems to be varied, ranging from very mild forms to severe forms. The laboratory finding of increased serum phosphorus is also something to look for when dealing with this type of OI. The use of intravenous bisphosphonate therapy appears to be effective in this form of the disease, as evidenced from the decrease in the fracture frequency before and after the commencement of the therapy.
Ali et al. (2025) studied this question.