OSTEOGENeSIS IMPERFECTA

INHERITANCE

• Autosomal dominant inheritance pattern
• The dominant altered gene directs cells to make an altered collagen protein or causes it to make no collagen protein
• Passed down from parent to offspring

PEDIGREE

• I1 is heterozygous with the dominant allele for OI while I2 is homozygous for not having OI. Their children can only be either heterozygous dominant or homozygous recessive.
• II5 is heterozygous dominant while II6 is homozygous dominant. Their ochildran all have OI because the allele is dominant.

SYMPTOMS

• Pain in the bones and joints
• Bluish tinted white part of the eye
• Bow legs
• Bruising
• Enlarged head & hearing loss
• Scoliosis
• Random fractures without any apparent cause
• Brittle teeth

Blusih tinged sclera (white part of eye)d

WHO IS AFFECTED?

• About 20,000-50,000 people are affected in the United States
• Males and females of all racial groups are equally affected

TREATMENTS

• Bone strengthening medication
• Physical therapy
• Orthopedic surgery
• Splints and orthopedic casts
• Hormome injections
• THERE IS NO CURE FOR OSTEOGENESIS IMPERFECTA

LIFE EXPECTENCY

• Life expectancy ranges from 45-70, although the older the patient is, the more brittle the bones tend to be
• !Total absence of CRTAP is lethal!

TYPES OF OI

• There are 8 types of Osteogenesis Imperfecta
• These 8 types are all similar, but range in severity

DIAGNOSING OI

• Blood tests
• Imaging
• Genetic studies

PROFFESIONALS

• Physical therapists
• Pediatricians
• Medical geneticists
• Orthopedic surgeons
• Dentists
• Endocrinologists

HISTORY

• First cases date back to 3,000 years ago when mummies were found with bones that were deformed and cracked.
• In the 20th century: a young deaf mother with blue tinged eyes, and a jazz pianaist who could not walk without crutches.

SOURCES

• "Osteogenesis Imperfecta." - Wikipedia, the Free Encyclopedia. Wikipedia. Web. 29 Jan. 2016.
• "Fast Facts - Osteogenesis Imperfecta Foundation | OIF.org." Fast Facts - Osteogenesis Imperfecta Foundation | OIF.org. OIF. Web. 29 Jan. 2016.
• "Genetics - Osteogenesis Imperfecta Foundation | OIF.org." Genetics - Osteogenesis Imperfecta Foundation | OIF.org. OIF. Web. 29 Jan. 2016.
• Cross, Jo. "MEDLINE, PubMed, PubMed Central, and the NLM." Editors' Bulletin 2.1 (2006): 1-5. Web.