Osteogenesis Imperfecta
Osteogenesis Imperfecta: Brittle Bone Disease
Sami Gizara
Lakeland High School
Honors Biology Block 6
March 10, 2013
Current Applications in Science
Abstract (Summary and Background) Osteogenesis Imperfecta was a severe, congenital genetic disorder which can cause the human bones to be extremely delicate. This disease is caused by a mutation(whether it be deletion or duplication) in chromosome 17q21, 31-q22, 7q22.1, which are the chromosomes that help the body produce the proteins to make collagen, which is what makes bones and muscles strong. Because of the body not being able to create collagen, the bones become very brittle and can increase the risk of fracture by a substantial amount. The lifespan of those with Osteogenesis Imperfecta differs due to how severe the disease is. The physical features of those with the OI are short stature, triangular shaped face, breathing problems, some hearing loss, brittle teeth, and bone deformities. Brittle Bone disease is relatively rare, with about 20,000-50,000 US citizens currently living with the disease. Though children with OI generally become stronger and fractures occur less often as they age, in women, it may become active again during and after menopause. There are four types of OI; Type 1 is the most common and least mild, Type 2 is the most severe form of the disease, Type 3 has other physical complications(such as respiratory issues, deafness, etc.) and the infant is usually born with fractures, and Type 4 is a less severe form of Type 3 but more severe than type 1. Often, cases of OI go undiagnosed, but simple testing can help to diagnose the disorder before worse things can happen.
Type of Research There has been much research on OI and its patients and for cures, and not many have been actually discovered. There have been different ways to help with the pain that comes with Osteogenesis Imperfecta. Medical Bisphosphonates could be given to the patient, which help strengthen the bones,
Sami Gizara
Lakeland High School
Honors Biology Block 6
March 10, 2013
Current Applications in Science
Abstract (Summary and Background) Osteogenesis Imperfecta was a severe, congenital genetic disorder which can cause the human bones to be extremely delicate. This disease is caused by a mutation(whether it be deletion or duplication) in chromosome 17q21, 31-q22, 7q22.1, which are the chromosomes that help the body produce the proteins to make collagen, which is what makes bones and muscles strong. Because of the body not being able to create collagen, the bones become very brittle and can increase the risk of fracture by a substantial amount. The lifespan of those with Osteogenesis Imperfecta differs due to how severe the disease is. The physical features of those with the OI are short stature, triangular shaped face, breathing problems, some hearing loss, brittle teeth, and bone deformities. Brittle Bone disease is relatively rare, with about 20,000-50,000 US citizens currently living with the disease. Though children with OI generally become stronger and fractures occur less often as they age, in women, it may become active again during and after menopause. There are four types of OI; Type 1 is the most common and least mild, Type 2 is the most severe form of the disease, Type 3 has other physical complications(such as respiratory issues, deafness, etc.) and the infant is usually born with fractures, and Type 4 is a less severe form of Type 3 but more severe than type 1. Often, cases of OI go undiagnosed, but simple testing can help to diagnose the disorder before worse things can happen.
Type of Research There has been much research on OI and its patients and for cures, and not many have been actually discovered. There have been different ways to help with the pain that comes with Osteogenesis Imperfecta. Medical Bisphosphonates could be given to the patient, which help strengthen the bones,
References: Pandya, Nirav, Keith Baldwin, Atul Kamath, Dennis Wenger, and Harish Hosalkar. "Unexplained Fractures: Child Abuse or Bone Disease? A Systematic Review." National Center for Biotechnology Information. N.p., 29 Sept. 2010. Web. 12 Mar. 2013. <http://www.ncbi.nlm.nih.gov/pmc/articles/ Osteogenesis Imperfecta-OrthoInfo - AAOS ." AAOS - OrthoInfo. N.p., n.d. Web. 12 Mar. 2013. <http://orthoinfo.aaos.org/topic.cfm?topic=a00051>. Spencer, Samantha. "Osteogenesis Imperfecta - Testing & Diagnosis." Boston Children 's Hospital. N.p., n.d. Web. 12 Mar. 2013. <http://www.childrenshospital.org/az/Site139