Presentation
Patients with OI type IIA present with broad ribs with multiple fractures, continuous beaded ribs and severe undermodeling of the femur, OI type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some undermodeling [orpha.net]
Case presentation We report a case of a 2-days-old newborn female of African descent who presented with pathognomonic features of OI type II. [kenkyugroup.org]
Presents at preschool age (tarda). [orthobullets.com]
He is Executive Advisory Editor of Bone Research (2013-present). [books.google.com]
We report 2 unrelated children who presented with long bone fractures and were suspected of having suffered physical abuse with removal of parents’ custodial rights. Presenting problem: Patient 1 was the second child of first cousins. [bone-abstracts.org]
Entire Body System
- Disability
More on health explainers "We’re [people with a disability] are like everyone else. We do want to date and we’re probably more comfortable in our own skin that a lot of people. [thesun.ie]
It can be easy to judge others with disabilities or distance ourselves due to differences, but Christ calls us to welcome them and love them like He does. “My command is this: Love each other as I have loved you.” John 15:12 [godtube.com]
This deletion was detected using array comparative genomic hybridization (aCGH), performed to identify a cause for her intellectual disability. [eprints.whiterose.ac.uk]
Our results support the findings of Glorieux et al that cyclic administration of intravenous pamidronate in children with OI has beneficial effects with respect to BMD z scores and physical disability. [pediatrics.aappublications.org]
Four main factors lead to disablement: active pathology, physical impairment, functional limitation, and disability. [hqlo.biomedcentral.com]
- Pallor
Psychomotor retardation, hypotonia, hypopigmentation, pallor, and a sideroblastic anemia are some of the characteristic findings of copper deficiency in infants. [pediatrics.aappublications.org]
Fetus
- Prenatal Fractures
It is characterized by a susceptibility to bone fractures with a severity ranging from slight fracture to prenatal fracture. [spandidos-publications.com]
Osteogenesis Type III (COL1A1 or COL1A2) Extremely fragile malformed bones and multiple fractures characterize OI type III. Fractures are often present at birth and x-rays may show signs of healing fractures that occurred prenatally. [rarediseases.org]
Musculoskeletal
- Vertebral Fractures
Patient 1 developed vertebral fractures aged 5 yrs. Pamidronate was started at 6 yrs. Patient 2 developed unequivocal vertebral wedging by 2.5 yrs, underwent bone biopsy and was started on zoledronic acid. [bone-abstracts.org]
T Reduction of height of vertebral bodies, scoliosis and rib deformities. U HPC after femur fracture. Case 7: V, W Patient images. X, Y Reduction of height of vertebral body and rib irregularities. Z CIM. [karger.com]
fracture associated with downward force causing effectively shatterning of the vertebral body of the osteoporotic vertebrae. [journals.lww.com]
Source: Imaging rheumatology-David Scoliosis is uncommon but multiple vertebral fractures are common in Type I OI. Biconcave vertebral bodies(fish vertebrae) Source: Net. [de.slideshare.net]
This type is characterised by blue sclera and vertebral fractures, leading to mild scoliosis. Functional level and intellectual development, as well as life expectancy, are normal. [ncbi.nlm.nih.gov]
- Normal Stature
[…] to fractures, normal dentition, normal stature, and normal life span. [ncbi.nlm.nih.gov]
Type I: the mildest and most common type — usually inherited bones fracture easily most fractures occur before puberty (adult women will occasionally have fractures after menopause) can usually be traced through the family near normal stature or slightly [childrenshospital.org]
Associations congenital cataracts The clinical presentation of osteogenesis imperfecta is highly variable, ranging from a mild form with no deformity, normal stature and few fractures to a form that is lethal during the perinatal period. [radiopaedia.org]
Patients with this condition have had short stature, blue or white sclerae, and normal hearing. A subset of patients have been seen with brain malformations and developmental delay. [emedicine.medscape.com]
stature and few fractures to a form that is lethal during the perinatal period. [physio-pedia.com]
- Severe Short Stature
Type III : This type is associated with severe fracture tendency, severe short stature, and progressive deformity and disability. Phenotypically, there is a small degree of overlap with type II OI. [de.slideshare.net]
Type III is severe and the main signs include severe short stature, a triangular face, severe scoliosis, grayish sclera, and DI. Type IV and 5 are moderate or severe forms. [orpha.net]
Type III, the most severe nonlethal form, is characterized by severe bone fragility, multiple fractures, and progressive marked deformity of the spine and long bones (Figure 2).3 Severe short stature may result from vertebral compression, kyphosis, deformity [contemporarypediatrics.com]
[…] sometimes severe Short stature Blue sclera (thought to be due to differential scattering of light because of differences in the connective tissue) tends to whiten with age Loose joints and poor muscle development Barrel-shaped rib cage Triangular face [en.wikibooks.org]
Type III OI, the most severe disease form that is compatible with life, is characterized by progressive skeletal deformity and severe short stature. [hqlo.biomedcentral.com]
Psychiatrical
- Fear
Water is a great place to start getting past the fear of movement. 4. [physio-pedia.com]
Changes guided by a fear of fracture and a concern for safety Parents reported that living with OI on a daily basis meant living with many fears and sources of stress. [bmcpediatr.biomedcentral.com]
“The children we see who have OI have such tremendously wonderful attitudes in spite of a history of a lot of pain and fear in their lives,” said Simmons. [news.vanderbilt.edu]
Growth from childhood to adult, and the hormonal changes involved, may adversely affect the course of OI symptoms It is difficult to obtain cooperation for physical therapy treatment from young children, as they are afraid to move, fearing pain Those [dovemed.com]
Neurologic
- Confusion
The wide spectrum of confusing clinical and radiographic phenotypes made the task even harder. [journals.lww.com]
It has been noted that it is possible that the presence of multiple otologic pathologies in OI may confuse the interpretation of tympanometric findings [ 18 ]. [hindawi.com]
It is sometimes confused with either type I or type III. There is generally more severe osteopenia and more extensive bone deformity than in type I. [de.slideshare.net]
Non-accidental injury: confusion with temporary brittle bone disease and mild osteogenesis imperfecta. Pediatr Radiol. 1997; 27 :111–3. [ PubMed : 9028840 ] Adami S, Gatti D, Colapietro F, Fracassi E, Braga V, Rossini M, Tato L. [ncbi.nlm.nih.gov]
Treatment
(A) Before start of treatment. (B) After two years treatment. [adc.bmj.com]
What treatment can be given? The mainstay of treatment is competent orthopaedic care at the time of fractures, to ensure that each fracture heals in a good position. [netdoctor.co.uk]
These measurements were made immediately before treatment and after one or two years of treatment. [nejm.org]
Other potential treatment modalities could include gene therapy or mesenchymal cell transplant. In the future, treatment choices will be further individualized in order to reduce disease morbidity and mortality. [indiana.pure.elsevier.com]
For the last three years the patient has not received any specific treatment. [ccmbm.com]
Prognosis
Prognosis Functional prognosis depends on the severity of the disease and on the quality of management. Vital prognosis depends on the severity of any respiratory complications associated with spinal deformities. [orpha.net]
The prognosis of type II is very unfavorable, mainly due to pulmonary insufficiency ralated to the small thorax and rib fractures. [thefetus.net]
This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. [ncbi.nlm.nih.gov]
Prognosis is very variable depending on type ranging from being uniformly lethal from type II to a slight reduction in life expectancy for type I. [radiopaedia.org]
Etiology
Etiology OI type IV can be autosomal dominant and caused by mutations in the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) or it can be autosomal recessive and caused by mutations of the PPIB gene (15q21-q22) (sometimes described as OI [orpha.net]
As noted recently, measurement of hearing loss and the determination of etiology of the hearing loss presents some challenges in OI [ 18 ]. [hindawi.com]
The sequence of diverse pathological events recorded within each family would be almost incomprehensible without a proper etiological understanding of the natural history of each child/family deformity that led to their occurrences. [journals.lww.com]
Epidemiology
Summary Epidemiology The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type IV is unknown. [orpha.net]
Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep. 2007;5(3):91-7. 5. Ромеро Р., Пилу Дж., Дженти Ф., Гидини А., Хоббинс Дж. С. Пренатальная диагностика врожденных пороков развития плода. [thefetus.net]
Epidemiology[edit | edit source] The estimated incidence is approximately 1 in every 12,000-15,000 births. OI occurs with equal frequency among males and females and across races and ethnic groups. [physio-pedia.com]
Pathophysiology
Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep. 2007;5(3):91-7. 5. Ромеро Р., Пилу Дж., Дженти Ф., Гидини А., Хоббинс Дж. С. Пренатальная диагностика врожденных пороков развития плода. [thefetus.net]
Mutations can also be caused by CRTAP or PH3H1(LEPRE1) in an autosomal recessive pattern. [14] Pathophysiology The pathophysiology of osteogenesis imperfecta is primarily due to a dysfunction in collagen and is classified under connective tissue diseases [eyewiki.aao.org]
The basic pathophysiology for OI is the mutation in the gene coding for type I collagen [3]. The most widely accepted classification was proposed by Sillence et al. in 1979 [4]. [hindawi.com]
Genetic_DisordersOriginal Editors - Barrett Mattingly from Bellarmine University's Pathophysiology of Complex Patient Problems project. [physio-pedia.com]
Etiology Pathophysiology can result from decreased collagen secretion production of abnormal collagen leads to insufficient osteoid production physeal osteoblasts cannot form sufficient osteoid periosteal osteoblasts cannot form sufficient osteoid and [orthobullets.com]
Prevention
To prevent further problems, it is recommended that a child begin moving or using the affected area as soon as possible. [physio-pedia.com]
Treatments for preventing or correcting symptoms may include: Bisphosphonate medicines. These are medicines that help to strengthen bones and prevent fractures. They may be used in most types of OI. [hopkinsmedicine.org]
At the end of surgery, closure of the sclerotomy wounds with partial-thickness scleral sutures requires care to prevent perforation. [jamanetwork.com]
Prevention of vitamin D and calcium deficiency is essential throughout life. [orpha.net]