osteogenesis imperfecta
osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue
Cole-Carpenter syndrome
osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance
Bruck syndrome
syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta