Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


Osteogenesis imperfect (OI) is a group of genotypically and phenotypically diverse disorders of connective tissue characterized by bone fragility. The classic typing of OI includes: type I (mildest), type II (perinatally lethal), type III (most severe non-lethal) and type IV (moderate). Diagnosis and accurate typing of mild and moderate types of OI are challenging due to the heterogeneity of OI and the lack of diagnostic criteria. We did a retrospective review of 84 patient charts with a diagnosis of mild and moderate forms of OI. We report on their diagnostic experience with the goal of evaluating the role of genotyping in establishing and confirming a diagnosis of mild or moderate OI. Our analysis supports the fact that no set of clinical data is diagnostic in these cases and genetic testing has valuable utility. We further constructed a genotype-phenotype map of our patient population, which can serve as an expandable tool for clinicians and families in the ongoing management of patients with mild and moderate types of OI.