osteogenesis imperfecta type II; osteogenesis imperfecta congenita, neonatal lethal form

Introduction

Most cases from new dominant mutations

Epidemiology

1 in 60,000

Pathology

• connective tissue disorder

Genetics

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

Clinical manifestations

• bone fragility, with many perinatal fractures
• severe bowing of long bones
• undermineralization
• perinatal death due to respiratory insufficiency

More general terms

• osteogenesis imperfecta

More specific terms

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

Database

• OMIM: https://mirror.omim.org/entry/166210
• OMIM: https://mirror.omim.org/entry/120150
• OMIM: https://mirror.omim.org/entry/120160