4/19/2015

Osteogenesis Imperfecta - Symptoms, Diagnosis, Treatment of Osteogenesis Imperfecta - NY Times Health Information

HOME PAGE

TODAY'S PAPER

VIDEO

MOST POPULAR

U.S.

N.Y. / REGION

Search All NYTimes.com

Health Guide

Sunday, April 19, 2015

WORLD

Log In Register Now Help

TIMES TOPICS

BUSINESS

TECHNOLOGY

SCIENCE

HEALTH

SPORTS

OPINION

ARTS

STYLE

TRAVEL

JOBS

REAL ESTATE

AUTOS

RESEARCH FITNESS & NUTRITION MONEY & POLICY VIEWS HEALTH GUIDE

Search Health 3,000+ Topics

SEND FEEDBACK

HEALTH > TIMES HEALTH GUIDE > O > OSTEOGENESIS IMPERFECTA

SHARE

Osteogenesis Imperfecta
Overview
Alternative Names
Causes
Symptoms
Exams and Tests
Treatment
Outlook (Prognosis)
Possible Complications
When to Contact a Medical
Professional
Prevention
References

News & Features

Osteogenesis imperfecta is a condition causing extremely

fragile bones.
NEWS & FEATURES

The Marks of Childhood or the Marks of Abuse?

Vegetables and Cheese Meet Bread

April 17, 2015

April 17, 2015

Accident, Child Abuse Or Genetics?

HUMANLIKE DEFECT IS CREATED IN MICE BY USING
FAULTY GENE

Ask Well: Do I Need an Annual Physical?

April 17, 2015

The Look of Love Is in the Dogs Eyes

April 16, 2015

PERSONAL HEALTH

Living With Cancer: In and Out of the Closet

April 16, 2015

REFERENCE FROM A.D.A.M.

Back to Top

More Blog Headlines

Brittle bone disease

Causes

Pectus
Excavatum

E-MAIL

The Weekly Health Quiz: Exercise, Women and the

Love of Dogs

For Girl, 3, Every Move Poses Risk of Injury

Alternative Names
Illustrations

See All

PRINT

Back to Top

Osteogenesis imperfecta (OI) is a congenital disease, meaning it is

present at birth. It is frequently caused by defect in the gene that
produces type 1 collagen, an important building block of bone. There are
many different defects that can affect this gene. The severity of OI
depends on the specific gene defect.
OI is an autosomal dominant disease. That means if you have one copy of
the gene, you will have the disease. Most cases of OI are inherited from a
parent, although some cases are the result of new genetic mutations.
A person with OI has a 50% chance of passing on the gene and the
disease to their children.

Symptoms

Back to Top

All people with OI have weak bones, which makes them susceptible to
fractures. Persons with OI are usually below average height ( short
stature). However, the severity of the disease varies greatly.

Health & Fitness Tools

BMI Calculator

The classic symptoms include:

What's your score?

Blue tint to the whites of their eyes (blue sclera)

Multiple bone fractures
Early hearing loss (deafness)
Because type I collagen is also found in ligaments, persons with OI often
have loose joints (hypermobility) and flat feet. Some types of OI also lead
to the development of poor teeth.

MOST POPULAR - HEALTH

E-MAILED

Symptoms of more severe forms of OI may include:

BLOGGED

Bowed legs and arms

1. Well: The Look of Love Is in the Dogs Eyes

Kyphosis

2. Well: The Right Dose of Exercise for a Longer Life

Scoliosis (S-curve spine)

3. Sex, Dementia and a Husband on Trial at Age 78

4. Well: Ask Well: Do I Need an Annual Physical?

Exams and Tests

Back to Top

OI is usually suspected in children whose bones break with very little

force. A physical examination may show that the whites of their eyes have

http://www.nytimes.com/health/guides/disease/osteogenesis-imperfecta/overview.html

5. Reactions: A Lively Comment Discussion About

Dementia and Sex
6. Use of E-Cigarettes Rises Sharply Among Teenagers,
Report Says

1/3

4/19/2015

Osteogenesis Imperfecta - Symptoms, Diagnosis, Treatment of Osteogenesis Imperfecta - NY Times Health Information
a blue tint.
A definitive diagnosis may be made using a skin punch biopsy. Family
members may be given a DNA blood test.
If there is a family history of OI, chorionic villus sampling may be done
during pregnancy to determine if the baby has the condition. However,
because so many different mutations can cause OI, some forms cannot be
diagnosed with a genetic test.
The severe form of type II osteogenesis imperfecta can be seen on
ultrasound when the fetus is as young as 16 weeks.

Treatment

7. Levi Watkins, 70, Dies; Pioneering Heart Surgeon

Pushed Civil Rights
8. Well: Treating Sleep Apnea May Ward Off Memory
Decline
9. Irwin Schatz, 83, Rare Critic of Tuskegee Study, Is
Dead
10. Well: Fish Oil Claims Not Supported by Research
Go to Complete List

ELSEWHERE ON NYTIMES.COM
Back to Top

There is not yet a cure for this disease. However, specific therapies can
reduce the pain and complications associated with OI.
Bisphosphonates are drugs that have been used to treat osteoporosis.
They have proven to be very valuable in the treatment of OI symptoms,
particularly in children. These drugs can increase the strength and
density of bone in persons with OI. They have been shown to greatly
reduce bone pain and fracture rate (especially in the bones of the spine).
Low impact exercises such as swimming keep muscles strong and help
maintain strong bones. Such exercise can be very beneficial for persons
with OI and should be encouraged.
In more severe cases, surgery to place metal rods into the long bones of
the legs may be considered to strength the bone and reduce the risk of
fracture. Bracing can also be helpful for some people.
Reconstructive surgery may be needed to correct any deformities. Such
treatment is important because deformities (such as bowed legs or a
spinal problem) can significantly affect a person's ability to move or walk.
Regardless of treatment, fractures will occur. Most fractures heal quickly.
Time in a cast should be limited since bone loss (disuse osteoporosis)
may occur when you do not use a part of your body for a period of time.

Video: Beijings Olympic bid faces

drought
China halts new policy on tech for banks
At marathon in North Korea, curiosity goes a long
way

Health Around the Web

Powered by BlogRunner

Many children with OI develop body image problems as they enter their
teenage years. A social worker or psychologist can help them adapt to life
with OI.

Outlook (Prognosis)

Back to Top

How well a person does depends on the type of OI they have.

Type I, or mild OI, is the most common form. Persons with this type can
live a normal lifespan.
Type II is a severe form that is usually leads to death in the first year of
life.
Type III is also called severe OI. Persons with this type have many
fractures starting very early in life and can have severe bone
deformities. Many become wheelchair bound and usually have a
somewhat shortened life expectancy.
Type IV, or moderately severe OI, is similar to type I, although persons
with type IV often need braces or crutches to walk. Life expectancy is
normal or near normal.
There are other types of OI, but they occur very infrequently and most are
considered subtypes of the moderately severe form (type IV).

Possible Complications

Back to Top

Complications are largely based on the type of OI present. They are often
directly related to the problems with weak bones and multiple fractures.
Complications may include:
Hearing loss (common in type I and type III)
Heart failure (type II)
Respiratory problems and pneumonias due to chest wall deformities
Spinal cord or brain stem problems
Permanent deformity

When to Contact a Medical Professional

Back to Top

Severe forms are usually diagnosed early in life, but mild cases may not
be noted until later in life. Make an appointment with your health care
provider if you or your child have symptoms of this condition.

Prevention

Back to Top

Genetic counseling is recommended for couples considering pregnancy if

there is a personal or family history of this condition.

http://www.nytimes.com/health/guides/disease/osteogenesis-imperfecta/overview.html

2/3

4/19/2015

Osteogenesis Imperfecta - Symptoms, Diagnosis, Treatment of Osteogenesis Imperfecta - NY Times Health Information

References

Back to Top

Marini JC. Osteogenesis imperfecta. In: Kliegman RM, Behrman RE,

Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed.
Philadelphia, Pa: Saunders Elsevier; 2011:chap 692.

MORE INFORMATION ON THIS TOPIC

News & Features

Review Date: 8/2/2011
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of
Pediatrics, University of Washington School of Medicine. Also reviewed by
David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
A.D.A.M., Inc. is accredited by URAC, also known as the American
Accreditation HealthCare Commission (www.urac.org). URAC's accreditation
program is an independent audit to verify that A.D.A.M. follows rigorous
standards of quality and accountability. A.D.A.M. is among the first to achieve
this important distinction for online health information and services. Learn more
about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M.
is also a founding member of Hi-Ethics and subscribes to the principles of the
Health on the Net Foundation (www.hon.ch).
A.D.A.M. Copyright
The information provided herein should not be used during any medical
emergency or for the diagnosis or treatment of any medical condition. A
licensed medical professional should be consulted for diagnosis and treatment
of any and all medical conditions. Call 911 for all medical emergencies. Links to
other sites are provided for information only -- they do not constitute
endorsements of those other sites. 1997- 2008 A.D.A.M., Inc. Any duplication
or distribution of the information contained herein is strictly prohibited.

2015 The New York Times Company

Site Map

Privacy

Your Ad Choices

Advertise

http://www.nytimes.com/health/guides/disease/osteogenesis-imperfecta/overview.html

Terms of Sale

Terms of Service

Work With Us

RSS

Help

Contact Us

Site Feedback

3/3