Osteogenesis imperfecta type V: A repost of two Filipino families and review of literature.
- Author:
Baluyot Melissa Mae P.
;
Cavan Barbra Charina V.
;
Alcausin Maria Melanie Liberty B.
- Publication Type:Journal Article
- Keywords: Bone Fragility; Osteogenesis Imperfecta Type V; Pamidronate; Filipino
- MeSH: Human; Osteogenesis Imperfecta; Patients; Bony Callus; Phenotype; Diagnosis; Genetic Counseling
- From: Acta Medica Philippina 2015;49(4):74-79
- CountryPhilippines
- Language:English
-
Abstract:
Osteogenesis imperfecta (Ol) type V is distinct Ol 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 Ol 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 Ol phenotype, difficulties in diagnosis, current practices in management and fracture prevention, and issues in genetic counseling.