Imperfecta (OI) is a genetic tissue disorder that could affect both male and
female with different ages equally. It could be found in all ethnic groups in
different tribes that races in different places. OI means imperfect bone
formation. It is heritable disorder that may affect the formation of the bone
that lead to low bones mass.
is a rare clinical disorder, occurring at a rate of between 1/10,000 and
1/25,000 worldwide. Lack of a good understanding of difficulties in the
diagnosis, optimal treatment, and recent progress about the disorder in the
world related to health concern this could potentially result in problems for
physicians, such as missed diagnosis, diagnostic error, or litigation (Zhao X,
Yan SG 2011).
is a heredity disorder caused by collagen deformity and mostly of the reason is
that caused by mutations of the human genes cording the chain of the collagen
type I gene that leads to autosomal dominant OI. There’s a lot of rare forms of
OI due to the deformity of protein involved in cross-linking, hydroxylation,
and mineralization of type I collagen (Joseph L S, Carolyne A, Jessica F,
Gerald H 2015).
major effect of this is the manifestation is skeletal fragility. The Skeletal
deformity, joint laxity, and sclerosis may be present. The other extra skeletal
manifestations include hearing loss, dentinogenesis imperfecta, blue/gray
sclera, advancing deafness, beading of the ribs, hypercalciuria, aortic root
dilatation, vascular, pulmonary complications and neurologic conditions such as
macrocephaly, hydrocephalus, and basilar invagination (Biggin A, Munns CF 2014).
The phenotype is variable, ranging from osteoporosis that may present in
adulthood to lethality in children. Even the adults with “mild” OI may have
significant musculoskeletal symptoms, including arthritis, fractures, back
pain, scoliosis, and tendon ruptures (McKiernan FE 2005). There’s a different
classification in OI base on the clinical signs according to David Sillence in
(1979). There are four (4) types of disease the type I to type IV and the most
common of this type is the type I ranging from 85%-90% cases caused by this
type because of the dominant mutation of the collagen type I. This four
classification has been use until now and there’s four new recently added the
type V to VIII (Starr SR, Roberts TT, Fischer PR 2010).
Imperfecta (OI) also affects the health concern diseases of the patient because
of that the patient having OI disease need to maintain the good health
otherwise the other internal organ will be affected that could lead to minor or
major health problems. These problems include lung problems, cardiac problems,
Neurological problems, Abnormal blood coagulation, Thalassemia, Periodontitis,
Gastric function, Kidney stones, Basilar impression (BI), Hearing,
Vision(connective tissue problem), Delayed would healing, Bone mass and bone
The patient that have OI disorder
may suffer in early-onset hearing loss and may suffer in early-onset of hearing
loss and it may depend on the type of OI patient has, hearing loss may vary.
(Pillion, Vernick, & Shapiro, 2011, p. 2).
of the cases that having OI suffering a back pain, and some other cases in
medical history have a single ankle fracture during childhood and followed by
right shoulder fracture during young adulthood. Some other cases comprised a
severe fracture in the ankle, right wrist and both shoulder joints.
a lot of the types of symptoms in OI it could be mild to severe. Each of the
patients may have different symptoms but all of the OI patients having weaker
bones and the common symptoms are; Short stature, Triangular shape of the face,
breathing problems, brittle teeth, hearing loss, and bone deformation (Lucie S,
Ivan M 2011). It is often possible to diagnose OI based on symptoms present and
clinical features may perform. The clinical geneticists can be perform
biochemical (collagen) or molecular (DNA) tests that could to help confirm a
diagnosis of OI in some situations. These kinds of tests generally require
several weeks before results comes (National institute of health 2012).
most important in managing OI and to stay healthy is to have a good
relationship with the doctor and medical specialists. The medical doctor
includes orthopedic, endocrinologist, pulmonologist, neurologist, surgeon,
radiologist and nutritionist. But the fact is until now there’s no cure for OI
only treatment. The treatment aim’s only to prevent or control the symptoms,
maximizing independent mobility, and developing optimal bone mass and the
muscle strength. The physical therapy, surgery and dental procedures may often
recommended for patient that having OI. The patient may use medical aid such as
wheel chairs and braces for teeth and other mobility aids (National institute
of health 2012). The current knowledge of OI treatment are; Physical therapy,
Surgical treatment, Pharmacologic therapy, Bisphosphonates, Neridronate,
Estrogen, Growth hormone (GH), Teriparatide, Denosumab, Cell-based therapy,
Gene therapy and the Stem cell transplantation.
Imperfecta is a heterogeneous disorder with a wide study specifically in clinical
characters and a large genetic diversity. In the years pass there’s a lot of
new genetic causes have been identified like the processing of type I collagen.
In this study it gives systematic overview and some cases of Ostegenesis
Imperfecta that vary in different places both male and female with different