Osteogenesis Imperfecta Type V: A Report of Two Filipino Families and Review of Literature

Melissa Mae P. Baluyot,1 Barbra Charina V. Cavan2 and Maria Melanie Liberty B. Alcausin1,3

1Institute of human Genetics, National Institute of Health, University of the Philippines Manila
2Department of Pediatrics, Cebu Doctors' University Hospital, Osmena Blvd., Cebu City
3Department of Pediatrics, College of Medicine and
Philippine General Hospital, University of the Philippines Manila

 

Osteogenesis imperfecta (OI) type V is a distinct OI phenotype that has recently been described. Patients with this phenotype present characteristically with interosseous membrane calcification and hyperplastic callus formation. We present the clinical and radiographic characteristics of two Filipino families diagnosed to have OI type V. Through this review of cases, we aim to educate healthcare providers by highlighting salient clinical and radiographic features to aid in the recognition of this specific OI phenotype, difficulties in diagnosis, current practices in management and fracture prevention, and isues in genetic counseling.

Key Words: Osteogenesis imperfecta Type V, bone fragility, pamidronate, Filipino