Autosomal dominant disease.
Synopsis
systemic anomalies
- perinatal death
- premature birth
- nonimmune hydrops
- low birth weight
ocular anomalies
- blue sclerae
craniofacial anomalies
- beaked nose
- large fontanelles
- platyspondyly
skeletal anomalies
- short limb dwarfism
- beaded ribs
- numerous multiple fractures present at birth
- soft calvaria
- absent calvarial mineralization
- hips usually flexed and abducted (frog-leg position)
- flattened acetabulae and iliac wings
- tibial bowing
- broad crumpled long bones
- telescoped femur
thin skin
congestive heart failure
pulmonary insufficiency
Types
Osteogenesis imperfecta type 1 (OI type 1)is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae.
Osteogenesis imperfecta type 2 (OI type 2)
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4 (MIM.166220)
Osteogenesis imperfecta with opalescent teeth (MIM.166240)
Etiology
mutations in COL1s genes
- mutations in COL1A1 gene (MIM.120150)
- mutations in COL1A2 gene (MIM.120160)
gonadal and somatic mosaicism reported in parent
References
Millington-Ward S, McMahon HP, Farrar GJ. Emerging therapeutic approaches for osteogenesis imperfecta. Trends Mol Med. 2005 Jun;11(6):299-305. PMID: 15949772
