SGD B07

Rebecca Mutia Agustina SilaenDessy Natasya Ade PutriI Gusti A Ayu Diah PradnyaJessica Raphaela PranataWilliam AbrahamSuyasa Adryan Yunanda

Collagen is an abundant structural protein in all animals. The tropocollagen or collagen molecule is a subunit of larger collagen aggregates such as fibrils

1. EDS ( Ehlers-Dalnos Syndrome )2. OI (Osteogenesis imperfect) 3. Stickler syndrome4. Alport Syndrome 5. EB (Epidermolysis bullosa)etc

Osteogenesis imperfecta (OI) is a heterogeneous group of heritable disorders affecting bone and connective tissue.It is most notably characterized by bone fragility, decreased bone mass and recurrent fractures that can lead to skeletal deformities.

Osteogenesis imperfecta (OI) or Brittle Bone disease is a genetic disorder of the connective tissue matrix which is majorly caused by the mutations in either COL1A1 or COL1A2, which encode the chains of type I collagen.

In most cases where the affected genes to encode protein have been identified, there has been found a malfunction linked to the maturation and processing of the collagen.

Sillence and Rimoin formulated a clinical classication,OI type I Characterized by blue sclerae and normal stature although affected individuals are often shorter than predicted by parental height

OI type IICharacteristic of OI type II are evident on prenatal ultrasound and at birth. Weight and length are small for gestational age. The sclerae are typically dark blue and connective tissue is extremely fragile.

OI type IIIFractures in the newborn period, simply with handling of the infant, are common. Growth velocity is slow and adult height is characterized by marked short stature, with some individuals achieving nal adult height of less than 1 m.

OI type III

OI type IVAdult-onset hearing loss, and normal-to-gray sclerae.OI type VThe distinguishing clinical features of OI type V include the common occurrence of radial head dislocation/subluxation and calcication of the interosseous membrane between the radius and ulna

OI type VIA moderate to severe phenotype associated with frequent fractures but is clinically indistinguishable from type IV OI. The hallmark is abnormal bone mineralization on histological examination

OI type VII-VIIIInfants tend to have congenital fractures and signicant undermineralization of their bones. Abnormal, popcorn, epiphyses have been described and speculated to result from abnormal hydroxylation of type I collagen in cartilage.

Physicians may find evidence of skeletal deformities accompanied by multiple past fractures that have healed using x-rays or bone scans.

Other ways to help confirm the diagnosis of OI include a history of osteogenesis imperfecta in the family, a skin biopsy, DNA testing, is accomplished by means of a blood test that is examined to locate the genetic mutation. Ultrasound imaging can be used to help diagnose OI before the child is born.

Since OI is a genetic disease, the differential diagnosis is mostly determined by the age and the severity levelHowever, it may lead to few considerations such as hypophosphatasia, thanatophoric dysplasia, campomelic dysplasia, and achondrogenesis for all of them also show symptoms of shortening of the limbs

1. Orthopaedic Management Aims to control the fracture and deformity correction toward normal function2. Cell Therapy Bone marrow transplantation, modifying the stem cells mesenchemal, Aims to prevent mutant alleles that cause this disease in addition to the continuous expression

3. Medical Calcium supplements, fluoride, or calcitonin.Treatment with bisphosphonates is the most common thing to do4. ExercisePatients are taught techniques standing, sitting, and lying down to protect the vertebrae

1. Hearing Loss 2. Spinal Deformity3. Respiratory Problem4. Cardiac Anomalies5. Airway Management

Respiratory failure is the most frequent cause of death for people with OI, followed by a traumatic accident.Although living with OI in the body, with many fractures, limited physical activity, and short stature, most adults and children with OI life managed to have a productive and successful life.