Herein, we present a new case of OI type IV with a newly detected mutation in the COL1A2 gene presented with incurved femurs of a female fetus in second trimester of gestation. [ncbi.nlm.nih.gov]

This poor quality type I collagen is present in reduced amounts in the bone matrix. [oif.org]

Presents at preschool age (tarda). [orthobullets.com]

The cesarean delivery rate is 54%, most of them for nonvertex presentation (usually breech presentation) and secondly because of an antenatal diagnoses of OI. [journals.lww.com]

The present study contributed to the understanding of COL1A1 mutations in the Han Chinese population with OI type IV. [spandidos-publications.com]

• Pain

  These types of OI result in numerous fractures, stunted growth and pain. In order to know for certain that a person has OI, a DNA test must be performed. This can be carried out on a blood sample. [boostb4.eu]

  […] associated with fibromyalgia Severe rheumatoid arthritis Post herpetic neuralgia Hydrocephalus with intractable headache Intractable headache syndrome Neuropathic facial pain Muscular dystrophy Osteogenesis imperfecta Chronic neuropathic pain associated [wikileaf.com]

  The Pain subscale ranges from 0 to 10, with higher value representing worse pain. [clinicaltrials.gov]

  Dealing with pain. Fractures and deformities can be very painful. Talk with your baby's healthcare provider about pain medicine or other ways to lessen pain. Dealing with challenges. [hopkinsmedicine.org]

  Treatment with bisphosphonates is aimed at increasing bone density and decreasing bone pain and fracture risk ( 1 ). [merckmanuals.com]

• Falling

  Brittle bone disease is a lifelong genetic disorder that causes your bones to break very easily, usually without any type of injury, as from a fall. Your doctor may also call it osteogenesis imperfecta. It affects both sexes and all races equally. [webmd.com]

  The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. [medlineplus.gov]

  Higher risk activities we do not recommend when you have OI: contact sports which involve tackles and unpredictable collisions or falls (for example, rugby, basketball, judo, football) trampolining certain gymnastic moves such as forward rolls, backward [gosh.nhs.uk]

  Type I is the mildest form of osteogenesis imperfecta and type II is the most severe; other types of this condition have signs and symptoms that fall somewhere between these two extremes. [disabled-world.com]

• Weight Gain

  “Because weight gain may result in less movement and is hard on the joints, we often work with a nutritionist who works with the patients to make better food choices,” says Ms. Oledzka. [hss.edu]

  In the very young adults, this can lead to inaccurate assessment of growth and weight gain, often leading to increased stress and anxiety for parents/carers. [dovepress.com]

• Pathologist

  Complete with technical discussions explaining the physical principles and instrumentation of imaging equipment, this is essential reading for radiologists, pediatricians, forensic pathologists and emergency room physicians. [books.google.ro]

• Respiratory Insufficiency

  Approximately 50% of affected infants are born prematurely or are stillborn.17 The remaining infants usually die of respiratory insufficiency, congestive heart failure, and/orinfection during the first year of life.16,17 Type II is characterized by extreme [contemporarypediatrics.com]

  […] perinatal period generally die from pneumonia or respiratory insufficiency Some have lived for months or years, but bones are very porotic and no evidence of haversian canals or lamellar bone Type I rarely diagnosed at birth because it is mildest form [en.wikibooks.org]

  They survive the neonatal period but have triangular facies, short stature, severe long bone deformities, may have respiratory insufficiency from pulmonary hypoplasia, fractures, and frequent hearing loss. [ijem.in]

  Type II (lethal) OI is associated with severe neonatal respiratory insufficiency. Infants usually succumb during the first week of life. [clinicaladvisor.com]

  Infants with OI type II have underdeveloped lungs and an abnormally small upper chest (thorax) that may result in life-threatening respiratory insufficiency. Some affected infants may experience congestive heart failure. [rarediseases.org]

• Barrel Chest

  He had normal sclerae and hearing and was barrel chested. Dentinogenesis imperfecta was present. He presented with a 6 month history of a progressively unsteady, wide based gait. [jnnp.bmj.com]

  It is a generalized disease of connective tissue that may manifest itself with one or more of the following findings: Blue sclerae Triangular facies Macrocephaly Hearing loss Defective dentition Barrel chest Scoliosis Limb deformities Fractures Joint [emedicine.medscape.com]

  Systemic Manifestations Blue/gray scleral hue Triangular facies Macrocephaly Progressive, post-pubertal hearing loss Defective dentition (or Dentinogenesis imperfecta) Barrel chest Scoliosis Limb deformities Fractures (with minimal or no trauma, after [eyewiki.aao.org]

  Barrel chest deformity and kyphoscoliosis are also common. Scleral hue is variable, often blue or gray, and sclera can be blue in infancy but lighten with age. Hearing loss generally begins in the teenage years. [nature.com]

• Osteoporosis

  What Is Osteoporosis? Osteoporosis is a condition in which the bones become less dense and more likely to break. Fractures (broken bones) from osteoporosis can result in significant pain and disability. [onlymyhealth.com]

  They are used widely in the treatment of osteoporosis in adults and have reduced the risk of fractures in women with postmenopausal osteoporosis, men with osteoporosis, and patients with glucocorticoid-induced osteoporosis in multiple clinical trials. [uptodate.com]

  In bone, this defect results in osteoporosis, thus increasing the tendency to fracture. Besides bone, type I collagen is also a major constituent of dentin, sclerae, ligaments, blood vessels and skin 4. [radiopaedia.org]

  The radiological examination revealed severe osteoporosis with no abnormalities in the laboratory findings. [dovepress.com]

• Arthritis

  NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases [medlineplus.gov]

  The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out [rarediseases.info.nih.gov]

  California Registration Fee – up to $100 (depends on county) Website – https://www.cdph.ca.gov/Programs/CHSI/Pages/MMICP.aspx Qualifying Conditions – P atients must have one of the following medical conditions: AIDS Anorexia Arthritis Cachexia Cancer [wikileaf.com]

  Strangely, in this study, arthritis of the hip with no clear causative mechanism was found in several family members with OI type V and a sporadic case. We hypothesized that this arthritis may be caused by the same pathogenic mechanism. [frontiersin.org]

  Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces and surgery. nih: national institute of arthritis and musculoskeletal and skin diseases Present On Admission POA Help "Present On Admission" is defined as present at the [icd10data.com]

• Low Back Pain

  The authors present a case report of a 25-year-old woman who had severe low back pain associated with incapacity to walk and breast-feed post-partum. Symptoms developed 2 weeks after delivery. [dovepress.com]

  […] a) 25% b) 50% c) 66% d) 75% e) 100% Answers: 1. c 2. e 3. a 4. a 5. b CASE STUDY 14 year-old girl presents to her pediatrician’s office with low back pain for 2 weeks duration. She denies any history of trauma or other associated symptoms. [gwumc.edu]

• Decrease in Height

  […] body height Small stature [ more ] 0004322 Wormian bones Extra bones within cranial sutures 0002645 Showing of 14 | Last updated: 7/1/2019 The resources below provide information about treatment options for this condition. [rarediseases.info.nih.gov]

  In severe types of OI, the patients manifest scoliosis and vertebral deformities that decrease body height and impede lung function. [ojrd.biomedcentral.com]

• Joint Dislocation

  dislocation, kyphoscoliosis COL1A2 c.324+4delA DN + + + + + + + + NA NA Muscular hypotonia, joint dislocation c.587G>T F + + NA - + NA - + NA NA Muscular hypotonia, intracranial bleeding c.432 + 4_432 + 7delAGTA DN + + + + + + - + NA NA Joint dislocations [mdpi.com]

  Additional symptoms associated with OI type I include loose (hyper extensible) joints and low muscle tone (hypotonia). This may result in a predisposition to joint dislocations and ligament sprains. Some patients have skin that bruises easily. [rarediseases.org]

• Tinnitus

  Hearing loss of conductive or mixed type occurs in about 50% of families, beginning in the late teens and leading, gradually, to profound deafness, tinnitus, and vertigo by the end of the fourth to fifth decade. [cags.org.ae]

  Conductive or mixed hearing loss occurs in about 50% of families, beginning in the late teens and leading, gradually, to profound deafness, tinnitus, and vertigo by the end of the fourth to fifth decade ... thin, easily bruised skin, joint hypermobility [ibis-birthdefects.org]

• Thin Skin

  In addition to fragile bones, type I is frequently accompanied by blue sclarae, hearing loss, thin skin, loose joints, low muscle tone and brittle teeth. [health.howstuffworks.com]

  skin prone to subcutaneous hemorrhage cardiovascular mitral valve prolapse aortic regurgitation Anatomy Type I collagen is the most important structural protein of bone, skin, tendon, dentin, sclera triple helix structure two alpha-1 chains coded by [orthobullets.com]

  Renal Kidney stones have at times been associated with osteogenesis imperfecta. [7] Integumentary Patients with OI may have thin skin. Excessive diaphoresis may be apparent. [physio-pedia.com]

  […] bones, multiple fractures, blue sclera, opalescent teeth, deafness due to middle ear osteosclerosis, scoliosis, thin skin, visceral herniation, dentinogenesis imperfecta, vascular lesions os·te·o·gen·e·sis im·per·fec·ta (OI) ( os'tē-ō-jen'ĕ-sis im'pĕr-fek'tă [medical-dictionary.thefreedictionary.com]

• Facial Pain

  […] associated with fibromyalgia Severe rheumatoid arthritis Post herpetic neuralgia Hydrocephalus with intractable headache Intractable headache syndrome Neuropathic facial pain Muscular dystrophy Osteogenesis imperfecta Chronic neuropathic pain associated [wikileaf.com]

• Dizziness

  At the age of 8 years, he had intermittent dizziness. When reviewed at the age of 9 years, he was asymptomatic and no neurological signs were elicited. Head circumference was 55 cm (>98th centile), and height 100 cm (<third centile). [jnnp.bmj.com]

Other causes of cranial vascular diseases were excluded after the clinical and laboratory workup. As a result, these findings were interpreted as vasculopathic changes secondary to vascular fragility caused by the collagen abnormality in OI. F ig 1. [ajnr.org]

Osteogenesis Imperfecta: Differential Diagnosis & Workup. http://emedicine.medscape.com/article/1256726-diagnosis. Website updated: 2008. Website accessed: April 5, 2010. ↑ Gahagan S, Rimsza ME. [physio-pedia.com]

[…] presence of three major criteria (blue sclerae, generalized joint hypermobility according to age, and hyperextensible skin) and one minor criterion (short stature), so we decided to include molecular testing for C1ROD with NGS technology in our diagnostic workup [mdpi.com]

The workup was identical in the two groups and comprised clinical examination, biochemistry, lumbar spine densitometry, evaluation by occupational therapists and physiotherapists, as well as radiographs and orthopedic consultations as required for clinical [academic.oup.com]

Establishing a diagnosis As with any disorder, a detailed history is a crucial element of the diagnostic workup. [nature.com]

This treatment involves inserting metal rods through the length of the long bones to strengthen them. The treatment also prevents and/or corrects deformities. [checkorphan.org]

None of the patients required iv Ca substitution during any treatment cycle. [academic.oup.com]

Management and Treatment How is osteogenesis imperfecta (OI) treated? The goal of treatment is to increase bone strength and help people with OI live more independently. [my.clevelandclinic.org]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

The prognosis of OI type 2 is poor, with some of the fetuses already dead in utero. Most infants will die in the perinatal period, 60% during the first day. [eurorad.org]

Prognosis - Osteogenesis imperfecta- type 4 The prognosis for an individual with OI varies greatly depending on the number and severity of symptoms. [checkorphan.org]

Prognosis: The prognosis often depends on the type of OI and thus the severity of the disease. Type I patients often have a normal life expectancy. [gwumc.edu]

A metal rod is inserted in the bones to strengthen, correct, and prevent deformity. ( 8, 9, 10 ) Osteogenesis Imperfecta Prognosis The prognosis varies depending on the number and severity of the symptoms. [healthool.com]

Part I covers general principles and techniques, including etiology, clinical evaluation, imaging as well as different surgical methods. [books.google.ro]

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]

The purpose of the current study was to identify and describe common gait deviations in a large sample of individuals with type I OI and speculate the etiology with a goal of improving function. [journals.lww.com]

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]

(b) The genetic epidemiology of OI in Sweden. Flow chart picturing the pediatric cohort (142 individuals), divided by OI and mutation type to illustrate the genetic epidemiology of this disorder in an entire population. [nature.com]

EPIDEMIOLOGY AND PREVALENCE Osteogenesis Imperfecta occurs in approximately 1 in 20,000 live births. More than 200 gene mutations have been associated with the OI phenotype. [gwumc.edu]

Pathophysiology OI is the result of mutations affecting the synthesis and processing of type I collagen, the major protein in bone and connective tissue. [clinicaladvisor.com]

What is Osteogenesis Imperfecta A hereditary condition resulting from a decrease or abnormalitly in the amount of normal Type I collagen What is the Pathophysiology? -decreased collagen secretion. [quizlet.com]

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]

However, in the past 10 years discoveries of further (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology [ 1 ]. [patient.info]

Some authors ( 7 ) have suggested a possible association between defective collagen maturation and the pathophysiology of ulnar artery aneurysms in OI. [ajnr.org]

These are used to prevent deformity and promote support or protection. [choc.org]

Surgery may be performed to correct and prevent deformities in children with OI severe enough to prevent walking. Correction of scoliosis may also be helpful, but difficult due to bone fragility. [myvmc.com]

People with OI are encouraged to exercise as much as possible to promote muscle and bone strength, which can help prevent fractures. [checkorphan.org]

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]

Once the bones are healed, the patient should undergo low impact exercises to increase mobility and prevent the possibility of future fracture. [healthool.com]