osteogenesis imperfecta type I; osteogenesis imperfecta tarda

Introduction

Mildest form. Divided into types 1A & 1B depending upon whether abnormal dentition (dentinogenesis imperfecta) is present.

Epidemiology

• 1 in 30,000
• inheritance: autosomal dominant

Pathology

• connective tissue disorder

Genetics

• associated with defects in COL1A1
• associated with defects in COL1A2

Clinical manifestations

• blue sclera
• hearing loss
• bone fragility variable
• non-deforming with normal height or mild short stature
• no dentinogenesis imperfecta

More general terms

• osteogenesis imperfecta

More specific terms

• osteogenesis imperfecta type I/COL1A1 mutation associated
• osteogenesis imperfecta type I/COL1A2 mutation associated

Database

• OMIM: https://mirror.omim.org/entry/166200