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Osteogenesis Imperfecta

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Nicole Inman

on 18 November 2013

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Transcript of Osteogenesis Imperfecta

Osteogenesis Imperfecta
Hearing in bisphosphonate-treated children with Osteogenesis Imperfecta:
Our experience in thirty-six young patients
Osteogenesis Imperfecta (OI) is an inherited disorder in which the genes for collagen 1, (COL1A1 and COL1A2) are mutated.

There are 3 ossicles (bones) of the ear: malleus, incus, and stapes. Patients with OI have malformed ossicles, and progressive hearing loss is typical in the second and third decades of life.

A common treatment for the disorder is bisphosphonates because it increases bone mineral density.

QUESTION: What other bone disease uses bisphosphonates to increase bone mass?
The Impact of Severe Osteogenesis Imperfecta on the Lives of young patients and their parents - A Qualitative Analysis
Study conducted at the Shriners Hospital for Children in Montreal, Canada, a specialized pediatric orthopedic hospital.

12 young patients diagnosed with severe Osteogenesis Imperfecta (OI) were interviewed with their parents.

The patients interviewed were aged from 15 to 21 years old.

Hearing losses of 15-63% are reported in untreated OI patients by the age 20.

Yet, no hearing loss was recorded in the 36 patients treated with Biphosphonates in the trial.

Question: Which cranial nerve is responsible for hearing?

No ethical control group was available.

Audiometry tests were used to evaluate auditory impairments if any

61% of patients evaluated had more than one hearing test conducted

81% of patients tested with OI had completely normal hearing test results
Exclusion Criteria:

Must be under 20 years old, and have started bisphosphate treatment before 12 years old.

72% type 1
8% type 4
3% type 3
11% unclassified OI
6% other variants of OI
Is there a cure for Osteogenesis Imperfecta?
No, but there are several treatments to increase bone strength.

How severe can
Osteogenesis Imperfecta be?
Osteogenesis Imperfecta can range from mild to very severe
Medication - Bisphosphonates, oral and intravenous

Surgery - metal rods inserted into long bones and spinal fusion

Physiotherapy - constantly change positions throughout the day

Physical Aids - crutches, splints and wheelchairs
There are 8 types of Osteogenesis Imperfecta, but 4 main types

Type 1 being the most common

The different types are distinguished by their signs and symptoms
How do doctors diagnosis patients with Osteogenesis Imperfecta?
How common is Osteogenesis Imperfecta and what are the signs?
Skin Biopsy

DNA testing

Gestation Ultrasound
How do you inherit
Osteogenesis Imperfecta?

The study characterized their findings into four themes.
Theme 1
Starting at the time of diagnosis

STAGE 1: Parents experienced the diagnosis as an earthquake

STAGE 2: Parents come to an acceptance of the diagnosis

STAGE 3: Parents gradually redefine a new normal
Theme 2
Living with OI is full of "ups and downs" throughout life:

For parents and patients, dealing with periods of frequent fractures is the most challenging.

Parents and patients alternated between negative and positive feelings.
Theme 3
Everyday life with OI presents significant challenges for the whole family due to the increased burden of care:


Huge attention required by a child with OI affected siblings

Home design

Select schools equipped with functional elevators and handicap accessible transportation system
Theme 4
Living with OI generated some positive experiences

Some parents become spokespersons for the disease

Siblings became more compassionate

Some spouses grew closer together
The study contributes to a better theoretical understanding of the impact of severe OI on families

The study also underscores the importance of a strong support system for the family.

Dogba, M. J., Bedos, C., Durigova, M., Montpetit, K., Wong, T., Glorieux, F. H., & Rauch, F. (2013). The impact of severe osteogenesis imperfecta on the lives of young patients and their parents - a qualitative analysis. BMC Pediatrics, 13, 153. Retrieved from

Osteogenesis Imperfecta and Pneumatization of Bone-A Hidden Bone Reality
Pneumatization in bones involves air-filled cavities in its structure.

Examination of pneumatization in bones can provide a diagnosis.

Provides further understanding of how certain pathology spread.

Focuses on four evaluations of a final diagnosis Osteogenesis Imperfecta : clinical, biochemical, karyotypic, and radiological.

Article uses a case report to explain the diagnosis process.
Associated Disorders Tied with Osteogenesis Imperfecta
These disorders affect the craniofacial and dental locations:

Dentinogenesis Imperfecta

Hypoplastic Maxilla


Reports of Pneumatization
Accessory air cells can be found within temporal bone.

PAT within zygomatic process arch is asymptomatic radiolucent .

Zygomatic air cell defects.

Symptomatic pathologies: giant tumor cells, hemogiomas, and metastatic tumor deposits.

Prevalence of Panoramic radiograph ranges from 1.62%- 2.5%.

Panoramic radiograph use in Orthodontics.
Case Study:
Radiological Approach
A 16 year old male complains of displaced anterior maxillary teeth and spacing.

Record impressions, profile pictures, and panoramic radiographs.

Radiographs shows multilocular asymptomatic radiolucent on right articular eminence.

Damage to pulps in relations to mandibular premolars.
What is Osteogenesis Imperfecta?
Osteogenesis Imperfecta (OI) is a group of genetic disorders that mainly affects the bones

People with OI have brittle bones that break easily from mild trauma or with no cause

These brittle bones are caused by defective connective tissue due to the deficiency of type 1 collagen
Normal teeth texture and color.

Presence of blue sclera

Common signs of bone disorders: Osteopetrosis, OI, and Fetal Rickets

Examine hematology.
Additional Findings
Results from Hematology
Examine blood calcium serum, phosphorus, and alkaline phosphate.

Increased alkaline phosphate

Normal calcium and phosphorus

Ruled out Osteopetrosis
Bowing of legs

Frequent ligament tear

Hyperlaxity of joints

Increased peroisteal reaction in fibula ( long bone)

No cupping at knee joint

Normal ulna
Medical History
Fetal Rickets?
Based on the medical history and observation, the ruling for Fetal Rickets is dismissed.

Mutations in the COL1A1, COL1A2, CRTAP, and LEPRE1 genes cause OI

COL1A1 and COL1A2 genes provide instructions for making proteins that assemble type 1 collagen

Many people with OI type 1 or 4 inherit the mutation from a parent with the disorder

Osteogenesis affects all racial groups equally

Researchers have seen higher populations of Nigerians and South Africans with Type 1 and 3

Osteogenesis Imperfecta affects 1/20,000 babies

Signs of OI include easily broken bones, discolored sclera, spinal curvature, loose joints, and loss of hearing

Karyotype Result
The patient's karyotype appeared normal, thus dismissing any other craniofacial syndromes.

No final diagnosis of OI from karyotyping.
PAT makes bones porous

PAT facilitates
pathologic legion

Panoramic radiograph
preliminary method.

PAT seen in TMJ as an
acute temporal fracture.

Caution with surgery and TMJ prosthesis.

The Patient does have Osteogenesis Imperfecta type 1.

Shows Dentinogenesis Imperfecta implications.

PAT may occur and can be found accidentally.

Jain, E., Valiathan, A., Urala, A., Kumar, S., & Natrajan, M. (2013). Osteogenesis imperfecta and pneumatization of bone-- A hidden reality. ORTHODONTICS: The Art & Practice Of Dentofacial Enhancement, 14(1), e150-e155. doi:10.11607/ortho.947

Karyotyping is a process of mapping out chromosomes by number and size.

Wormian bone can
occur in OI patients.

Also seen in other
craniofacial bone

Genetic karyotyping can properly show or dismiss any craniofacial bone syndromes.
Spencer, S. (2011). KidsMD Health Topics. Osteogenesis Imperfecta  | Boston Children's Hospital. Retrieved November 11, 2013, from http://www.childrenshospital.org/health-topics/conditions/osteogenesis-imperfecta

Osteogenesis Imperfecta - Cedars-Sinai. (2013.). Osteogenesis Imperfecta - Cedars-Sinai. Retrieved November 13, 2013, from http://www.cedars-sinai.edu/Patients/Health-Conditions/Osteogenesis-Imperfecta.aspx

Ting, T. H., & Zacharin, M. R. (2012). Hearing in bisphosphonate-treated children with osteogenesis imperfecta: Our experience in thirty six young patients. Clinical Otolaryngology, 37(3), 229-233. doi:10.1111/j.1749-4486.2012.02476.x
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