Type V Osteogenesis Imperfecta

Patients with type V osteogenesis imperfecta have been evaluated and treated according to accepted clinical standards for osteogenesis imperfecta in the Osteogenesis Imperfecta Clinic at the Kennedy Krieger Institute. This OI type constitutes about 4-5 % of OI patients. We have evaluated and treated 11 patients including three families with this rare disorder. We submit that our experience with this disorder should be available to the medical community. We request permission to conduct a chart review of these patients and permission to publish the results of that review. Also, because the genetic basis for type V OI is unknown, we will obtain blood for DNA analysis from each patient and 1-2 first degree non-affected relatives. These genetic studies will be conducted at Baylor College of Medicine using linkage analysis, candidate gene analysis and direct sequencing of PCR ampilfied coding sequences as appropriate.