How to cite:

Kirnia Tri Wulandari, Tikto. (2021). Case Report: Osteogenesis

Imperfecta in Daughter Patients Aged 6 Years 9 Months. Journal

Eduvest. 1(10): 1075-1079

E-ISSN:

2775-3727

Published by:

https://greenpublisher.id/

KEYWORDS

This study aims to identify and report cases of osteogenesis imperfecta in child

patients aged 6 years 9 months. Osteogenesis imperfecta (OI) is a rare disease with a wide

Kirnia Tri Wulandari, Tikto

Case Report: Osteogenesis Imperfecta in Daughter Patients Aged 6 Years 9 Months

1076

spectrum of clinical and genetic variability; characterized by very brittle bones, blue

sclera, dentinogenesis imperfecta, scoliosis and hearing loss (Ginting & Sitanggang,

2015).

Osteogenesis imperfecta (OI) is a genetic disease that causes bone fragility

formation of tissues such as bone, tooth enamel, eye sclera, skin, tendons, and ligaments

(Suadiatmika, 2018). However, the actual incidence is estimated to be higher considering

that there are pediatric patients who are not diagnosed because they have mild signs. OI

occurs in all racial and ethnic groups.

Osteogenesis imperfecta, also known as 'brittle bone disease', is primarily caused

by mutations in the genes COL1A1 and COL1A2.3,4 These genes provide the

instructions for making type I collagen, which is the most abundant protein in bone, skin,

and connective tissue. others to ensure the structure and strength of the body

(Suadiatmika, 2018). Changes in the COL1A1 and COL1A2 genes cause a pro-alpha 1 or

pro-alpha 2 chain defect, so that type I collagen production is reduced and results in

(Fauziah, 2012). Thus dentists must know the dental abnormalities that occur in patients

with OI, because it involves poor aesthetics, causing most sufferers to feel inferior

(Muliyawan, 2013).

Osteogenesis imperfecta (OI) is a serious genetic disorder affecting the

connective tissue, characterized by easy fracture of the bone, often due to very minor or

no visible trauma. Synonyms of this disease are: imperfect osteogenesis, Van der Hoeve

syndrome, Eddowe syndrome, Lobstein disease, fragile bone disease, Vrolik disease.

Although fractures can often occur in pediatric patients with OI, the number of

fractures can also decrease in adults due to the influence of sex and growth hormones

(SENJA, 2018). On the other hand, the reduced amount of hormones present at

This study uses a qualitative method with the type of case report. The sampling

technique used in this study the author uses the Random Sampling technique or by using

the Slovin formula in Husein Umar. Where each population has the same opportunity to

be selected as a sample in this study. Tthe sampling technique is done by random

sampling technique and collected the data using observation, interview and

documentation.

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instructions for making type I collagen, which is the most abundant protein in bone, skin,

and connective tissue. others to ensure the structure and strength of the body. Changes in

the COL1A1 and COL1A2 genes cause a pro-alpha 1 or pro-alpha 2 chain effect, so that

type I collagen production is reduced and results in brittle bones. Of the 250 mutations,

the two most common types are null mutations and negative dominant mutations.

There are several types of OI, with clinical symptoms ranging from mild to

severe, and each patient may have a different combination of symptoms. The bones of all

patients with OI are generally more brittle. Common symptoms of OI include: short

stature, triangular face, difficulty breathing, hearing loss, weak teeth, deformities, such as

injury, usually when the child begins to walk. Children with mild osteogenesis imperfecta

may experience multiple fractures during childhood and even after adolescence when the

bones are stronger. Sometimes, children with osteogenesis imperfecta develop heart or

lung disease.

Common health problems in children and adults with OI include: short stature,

weak tissues, fragile skin, muscle weakness and loose joints, bleeding, easy bruising,

frequent nosebleeds, and a small number of people suffer from severe bleeding from

injuries and hearing loss. . Starting in childhood, it affects about 50% of adults, breathing

problems, a higher risk of asthma and other lung problems, and curvature of the spine.

In addition to fractures, OI patients often experience muscle weakness, hearing

medical literature. Its severity ranges from fatal to mild forms, with almost no obvious

and symptoms outlined above. Traditionally, much emphasis has been laid on the

presence or absence of blue sclera and dentinogenesis imperfecta as diagnostic signs of

Case Report: Osteogenesis Imperfecta in Daughter Patients Aged 6 Years 9 Months

1078

more frequently clinically evident in primary than in permanent teeth of patients with

osteogenesis imperfecta. Radiological or histological examinations frequently show

abnormalities, even in individuals whose teeth look normal on inspection.

Clinically evident hearing loss is rare in the first two decades of life, even though

in the absence of affected family members and when bone fragility is not associated with

obvious extraskeletal abnormalities.

The uncertainty in such cases is compounded by the fact that there are no agreed

minimum criteria that establish a clinical diagnosis of the disorder. In this situation,

analysis of the collagen type 1 genes can provide helpful information, which can be done

by investigating the amount and structure of type 1 procollagen molecules that are

derived from the patient’s cultured skin fibroblasts.

Alternatively, genomic DNA can be extracted from white blood cells and the

coding region of the COL1A1 and COL1A2 genes can then be screened for mutations.

Both of these approaches are thought to detect almost 90% of all collagen type 1

The case that we present is a patient, initials F, female, aged 6 years 9 months,

came to the pediatric polyclinic for control and asked for a referral to RSUP Soetomo.

His medical history, the patient has experienced 32 different fractures since birth,

physical examination revealed curved arms and legs, laterally curved spine, blue sclera,

carious teeth honey brown cororation, barrel chest, radiological examination showed

severe osteoporosis without abnormalities in laboratory findings. There is no history of

similar disease in the patient's family.

The patient underwent routine treatment since the age of 1 year 9 months. In the

last 2 years the patient has not experienced a fracture. The patient was treated with

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distinguished from other differential diagnoses. With a careful examination, it is hoped

that the diagnosis of osteogenesis imperfecta cases can be better.