Collagen-derived markers of bone metabolism in osteogenesis imperfecta
. Acta Paediatr 1998;87:1131-7.
Some disorders cause people to be unusually tall (Marfan syndrome) or short (chondrodysplasias, osteogenesis imperfecta
), or to have head and facial structure malformations (Apert syndrome, Pfeiffer syndrome).
The work, reported in the March NATURE MEDICINE, raises the prospect of a treatment that attacks osteogenesis imperfecta
at its core.
In some circumstances, the failure to properly diagnose may allow a treatable disorder, eg, hemophilia or osteogenesis imperfecta
, to go unrecognized.
Further, she reported having a brother, father, and grandmother, each with osteogenesis imperfecta
Saqdi passed away in his sleep due to complications from osteogenesis imperfecta
. Even though pediatric wheelchairs cannot prevent every complication, they do provide comfort, support, mobility and hope to children who otherwise would be left laying flat and forgotten as the world passes them by.
"This problem is even more serious in children with osteogenesis imperfecta
, or brittle bone disease, and in elderly adults with osteoporosis, because their fragile bones can easily and repeatedly break, and bone graft surgical treatment is often not successful or feasible," Spagnoli said.
Classification of osteogenesis imperfecta
A 28-year-old osteogenesis imperfecta
sufferer has been helped into a new role at the BBC by a Warwickshire employment charity.
The differential diagnosis includes osteogenesis imperfecta
, metabolic disorders and accidental injury.
He'll always be my little boy.'' Amanda suffers from osteogenesis imperfecta
- commonly known as brittle bone disorder.