Table 1

syndromes with congenital brittle bones

Osteogenesis Imperfecta

Mild OI with normal stature

Moderate OI with short stature

Severe OI

Lethal OI

Congenital brittle bones with dense areas in bones

Syndromes resembling OI (SROI)

Congenital brittle bones with craniosynostosis and ocular proptosis

Congenital brittle bones with congenital joint contractures

Osteoporosis-pseudoglioma syndrome

Congenital brittle bones with optic atrophy, retinopathy and severe psychomotor retardation

Congenital brittle bones with microcephaly and cataracts

Congenital brittle bones with redundant callus

Congenital brittle bones with mineralization defect

Congenital brittle bones with rhizomelia

Plotkin BMC Pediatrics 2004 4:16   doi:10.1186/1471-2431-4-16