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/
Eduvest – Journal of Universal Studies
Volume 1 Number 10, October 2021
p- ISSN 2775-3735 e-ISSN 2775-3727
CASE REPORT: OSTEOGENESIS IMPERFECTA IN DAUGHTER
PATIENTS AGED 6 YEARS 9 MONTHS
Kirnia Tri Wulandari, Tikto
General practitioner at Gantrung Field Hospital, Pediatrician at Dolopo
Hospital, Madiun Regency, East Java
E-mail: kirnia.wulandari@gmail.com, pus[email protected]
ARTICLE INFO ABSTRACT
Received:
September, 26
th
2021
Revised:
October, 12
nd
2021
Approved:
October, 14
th
2021
Osteogenesis imperfecta (OI) is a rare disease with a wide
spectrum of clinical and genetic variability; It is
characterized by very brittle bones, blue sclera,
dentinogenesis imperfecta, scoliosis and hearing loss. This
study aims to identify and report cases of osteogenesis
imperfecta in child patients aged 6 years 9 months. This
study uses a qualitative method with the type of case
report. The sampling technique used in this study is
random sampling technique by Slovin formula in Husein
Umar. In this study, each population has same
opportunity to be selected as a sample. Based on the
results of the analysis and discussion, it can be concluded
that the case of osteogenesis imperfecta is a complex
congenital disorder and must be distinguished from other
differential diagnoses. Furthermore, with a careful
examination, it is hoped that the diagnosis of
osteogenesis imperfecta cases can be better.
KEYWORDS
Osteogenesis imperfecta, Daughter, Aged 6 Years 9 Months
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INTRODUCTION
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
caused by mutations in the gene encoding the type I collagen chain. Collagen is the most
abundant protein in bones, teeth, sclera and ligaments. The known incidence in under-
fives is about 1 in 20,000 births. It is estimated that 25,000 to 50,000 people suffer from
OI in the United States (Hasanah, 2014).
The majority of OIs occur due to mutations in genes responsible for the
production of intracellular type I procollagen, which plays an important role in the
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
brittle bones. Of the 250 mutations, the two most common types are null mutations and
negative dominant mutations (Febriani, 2013).
Although OI is not found in daily practice, this disorder is a common disease for
which the provision of appropriate management must be considered (Norlela &
Muflihatin, 2015). Dental, oral and craniofacial manifestations are often observed and can
be a very important diagnostic tool if physical signs and symptoms are uncertain
(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
menopause may exacerbate the clinical manifestations of OI. The prognosis varies from
very good (autosomal dominant form) to very poor (autosomal recessive form) because
the variation in clinical manifestations is very large (Dewi, 2019).
RESEARCH METHOD
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.
Eduvest – Journal of Universal Studies
Volume 1 Number 10, October 2021
1077 http://eduvest.greenvest.co.id
RESULT AND DISCUSSION
A. Pathophysiology, Symptoms and Diagnosis of Osteogenesis Imperfecta (OI)
1) Pathophysiology
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. Changes in
the COL1A1 and COL1A2 genes cause a pro-alpha 1 or pro-alpha 2 chain effect, so that