Treatment Treatment Options: Fractures require stabilization and hydrocephalus, if present, needs to be treated promptly. [disorders.eyes.arizona.edu]

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]

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

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

Conflicts of interests There is no conflict of interest present in the realization of this clinical case. References Ruck J, Dahan-Oliel N, Montpetit K et al. [revistamedica.com]

• Short Stature

  Medical Term Other Names Description Moderately short stature Short stature, moderate A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. [rarediseases.oscar.ncsu.edu]

  OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term). [orpha.net]

  It is common for leg bones, humerus and femur to be short. Short stature is common. Coxa vara is common. OI Type VII results from recessive inheritance of a mutation in the CRTAP gene. [oif.org]

  She was found to have triangular facies, generalized, non-paralytic hypotonia, severe scoliosis, pectal deformity, extreme short stature, and blue scleral hue. Cerebellar signs were absent. [jpeds.com]

  Clinical findings of OI type V include mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, white sclera and no dentinogenesis imperfecta. [iofbonehealth.org]

• Disability

  If you have other children, they might have a range of feelings about having a sibling with disability. They need to feel that they’re just as important to you as your child with disability – that you care about them and what they’re going through. [raisingchildren.net.au]

  Please enable JS and disable any ad blocker [lequotidiendumedecin.fr]

  Learn more about neurosurgery About Gillette Children who have disabilities and complex medical needs—and their families—have been at the center of our mission for more than 120 years. [gillettechildrens.org]

  How do we deal with the motivating power of poverty, disability, anger and self-loathing? Meet Fredrick Brennan. [getreligion.org]

• Swelling

  The aim of this paper is to distinguish between swellings because of intrinsic bone disorders and these due to child physical abuse. 1. [hindawi.com]

  In August 2016, without obvious inducement, pain and swelling in the middle and lower parts of the right thigh occurred, and local skin temperature increased and slowly aggravated. [frontiersin.org]

  Clinical examination revealed a diffuse, ill-defined, hard swelling over the upper lateral aspect of the left thigh. There was no other obvious bone deformity. The sclerae were white and the teeth were normal. [indianpediatrics.net]

  (d) Photograph documenting the swelling of the right thigh. Reproduced from Am J Hum Genet, Vol 91, Semler O, Garbes L, Keupp K, et al. [iofbonehealth.org]

  There was a soft tissue swelling in the right arm. Investigations showed Hb concentration 11 gm/dl, Total leukocyte count: 6400 cells/cmm, Differential count P60%, L 40%, ESR 11 mm/hr, Blood Urea Nitrogen 16 mg%, S. [jpgmonline.com]

• Pallor

  There was no pallor, icterus, cyanosis, clubbing, lymphadenopathy, or pedal edema. Respiratory system revealed barrel shaped chest with equal bilateral air entry. Cardiovascular system revealed normal heart sounds. [apicareonline.com]

• Dyspnea

  The most common related adverse events of any grade were hypertension (68%), fatigue (46%), headache (25%), neutropenia (21%), diarrhea (18%), pulmonary hypertension (14%), dyspnea (14%) and peripheral edema (14%). [marketscreener.com]

• Diarrhea

  The most common related adverse events of any grade were hypertension (68%), fatigue (46%), headache (25%), neutropenia (21%), diarrhea (18%), pulmonary hypertension (14%), dyspnea (14%) and peripheral edema (14%). [marketscreener.com]

• Hearing Problem

  Audiologists to diagnose and treat hearing problems and prescribe hearing aids. Dental providers, including orthodontists and oral-maxillofacial surgeons. Occupational therapists. [my.clevelandclinic.org]

  Joints can be hypermobile or very flexible Some degree of joint or bone pain may be present Problems with formation of teeth (dentinogenesis, or DI) Children with OI may tire easier than other children Hearing problems are known to affect people with [gosh.nhs.uk]

  The diversity of the clinical phenotypes of discolored teeth, blueness of the sclera, back and joint pain, cardiovascular disease, Diabetes type II, hearing problems and a long list of orthopedic problems are have to be considered. [journals.lww.com]

  None of the patients presented with blue sclerae or hearing problems, and only one girl (F7II1) was noted to have dentinogenesis imperfecta ( Figure 3E ). [frontiersin.org]

• Blue Sclera

  sclera and fragility of bone Q78.0 with blue sclera and fragility of bone Q78.0 Disease, diseased - see also Syndrome Eddowes' Q78.0 (brittle bones and blue sclera) Lobstein's Q78.0 (brittle bones and blue sclera) Vrolik's Q78.0 (osteogenesis imperfecta [icd10data.com]

  Key words: Osteogenesis imperfecta type II, multiple fractures, blue sclera, and crystal bones. [revistamedica.com]

  The Chinese Union Medical College Hospital reported five cases of OI-V type patients with IFITM5 gene mutation, including femoral HPC, no blue sclera, and enamel dysplasia. [frontiersin.org]

  Additional abnormalities such as short stature, blue sclera, and dentinogenesis imperfecta have been described. [hindawi.com]

  White and blue sclerae were observed, and 21 individuals had DI. [karger.com]

• Visual Impairment

  The mother noticed visual impairment and deafness and child was sleeping with eyes half open. On examination, the child had microcephaly, flat occiput and dysmorphic facies (microphthalmia, low set ears and micrognathia). [jpgmonline.com]

• Visual Impairment

  The mother noticed visual impairment and deafness and child was sleeping with eyes half open. On examination, the child had microcephaly, flat occiput and dysmorphic facies (microphthalmia, low set ears and micrognathia). [jpgmonline.com]

• Muscle Weakness

  The results showed that the muscle-bone relationship was similar between groups. The authors speculated that muscle weakness may have acted in OI patients as a negative factor in decreasing bone strength [14]. [jocr.co.in]

  Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. [natureasia.com]

  weakness Triangular face Family history of OI Hypophosphatemia Bone pain Rickets Tooth Abscesses Recommended testing strategy Tests below can be ordered individually, however our laboratory’s recommended Comprehensive Testing for osteogenesis imperfecta [unmc.edu]

  Some features of this type of osteogenesis imperfecta include: Bones predisposed to fracture; most fractures occur before puberty Normal or near-normal stature Loose joints and muscle weakness Sclera (whites of the eyes) usually have a blue, purple, or [bones.emedtv.com]

• Macrocephaly

  However, in the reports that have been made, it has been observed that the most associated phenotype is type III. [11] Macrocephaly in patients with OI Macrocephaly has been observed previously in patients with OI. [10], [11], [12] A large retrospective [pediatricneurosciences.com]

  Macrocephaly may be present. Microcephaly is rarely present. Infants with OI Type II usually die within weeks of delivery. A few may survive longer. Cause of death is usually respiratory and cardiac complications. [oif.org]

  X-ray features Skull shows relative macrocephaly and Wormian bones. Back reveals mild-to-moderate scoliosis. [ijem.in]

  […] 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 Relative macrocephaly [en.wikibooks.org]

  • Macrocephaly may be present. Microcephaly is rarely present. • Infants with OI Type II usually die within weeks of delivery. [ipodindia.org]

• Arthritis

  Where to Start 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 [rarediseases.info.nih.gov]

  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]

• Severe Short Stature

  Height: Individuals with type III OI have severe short stature by definition; individuals with type IV OI recruited to the study will have height less than the 3rd percentile for age. [clinicaltrials.gov]

  […] 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]

  Patients presented with multiple fractures, bowing of long bones, low bone mineral density, pectus excavatum, and moderate to severe short stature. [emedicine.medscape.com]

  She walks with crutches, and her physical examination showed that she had short stature (116 cm; >-2 SD), weight of 47.4 kg (>-2 SD), BMI of 35.2 (severe obesity), mild scoliosis, short chest, and no rhizomelic shortening of upper and lower limbs. [karger.com]

• Decrease in Height

  Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. [rarediseases.oscar.ncsu.edu]

  […] body height Small stature [ more ] 0004322 Triangular face Face with broad temples and narrow chin Triangular facial shape [ more ] 0000325 Vertebral wedging Wedge-shaped vertebrae 0008422 Wormian bones Extra bones within cranial sutures 0002645 Showing [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]

  In our cohort, we found that children with type I OI have birth lengths within the normal range, but the height percentiles gradually decrease to the subnormal range in childhood with final adult heights ending up slightly below the normal height range [nature.com]

• Skin Disease

  Where to Start 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 [rarediseases.info.nih.gov]

  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]

  Diamond Ave, Suite 210, Gaithersburg, MD 20878 Phone: (301) 947-0083 Toll-Free: (800) 981-2663 Fax: (301) 947-0456 Email: [email protected] Website: http://www.oif.org National Institute of Arthritis and Musculoskeletal and Skin Diseases 1 AMS Circle Bethesda [dovemed.com]

• Intracranial Hemorrhage

  An analysis of death certificates in a cohort of patients with OI showed an increased incidence of intracranial hemorrhage secondary to trauma. [pediatricneurosciences.com]

  Multiple fractures and intracranial hemorrhage may cause a death in the perinatal period. The prognosis and performance of the affected individuals varies with the type of the disease and phenotype. [thefetus.net]

Thorough preoperative workup including patient coagulation profile, cardiorespiratory workup including electrocardiography, echocardiography, pulmonary function tests are mandatory. [apicareonline.com]

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

Imperfecta Treatment market is predicted to grow. [honestversion.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]

We report a patient of type V OI, who had exacerbation of callus hyperplasia on treatment with bisphosphonates. [indianpediatrics.net]

If you have questions about which treatment is right for you, talk to your healthcare professional. [rarediseases.info.nih.gov]

[…] bone density and decreasing fractures X-rays, as required for diagnosis and treatment Osteogenesis Imperfecta patients can also take advantage of the following complementary treatment services offered at Kennedy Krieger: Audiology : Evaluates patients [kennedykrieger.org]

Prognosis - Osteogenesis imperfecta- type 5 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]

The prognosis of type II is very unfavorable, mainly due to pulmonary insufficiency ralated to the small thorax and rib fractures. [thefetus.net]

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]

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]

Etiology The causal gene for OI type V is not known Differential diagnosis A clinically similar but histologically different type of OI type V (sometimes described as OI type VI) has been described and is thought to be autosomal recessive but the causal [orpha.net]

Such a situation is easily understandable when it is considered that in many instances of abnormality of the bones there is no known etiology, and in some cases there is failure to represent even a recognized syndrome. [pubs.rsna.org]

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]

ORPHA:216828 Synonym(s): OI type 5 Prevalence: Inheritance: Autosomal dominant or Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: Q78.0 OMIM: 610967 UMLS: C1970414 C2931093 MeSH: C536046 GARD: 8699 MedDRA: - Summary Epidemiology To date 47 [orpha.net]

Osteogenesis imperfecta: Epidemiology and pathophysiology. Current Osteoporosis Reports, 5 (3), 91–97. [unmc.edu]

Epidemiology • In OI, defective collagen means that the bones are extremely fragile and can fracture as a result of everyday movements. • Simple movements such as opening a door or turning over in one’s sleep can cause these fractures. 5. [de.slideshare.net]

Osteogenesis imperfecta: epidemiology and pathophysiology. Curr. Osteoporos Rep. 5: 91-7, 2007. [wohproject.org]

Osteogenesis imperfecta: Epidemiology and pathophysiology. Current Osteoporosis Reports, 5 (3), 91–97. [unmc.edu]

Osteogenesis imperfecta: epidemiology and pathophysiology. Curr. Osteoporos Rep. 5: 91-7, 2007. [wohproject.org]

Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep. 2009;5(3):91–7. doi: 10.1007/s11914-007-0023-z. View Article Google Scholar Byers PH, Steiner RD. Osteogenesis imperfecta. [humgenomics.biomedcentral.com]

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]

Pathophysiology of disease: an introduction to clinical medicine. 7th ed. USA: McGraw-Hill; 2014. 9. Robichon J, Germain JP. Pathogenesis of osteogenesis imperfecta. Can Med Assoc J 1968;99:975-9. 10. Avioli LV, Krane SM. [pediatricneurosciences.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]

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

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]

Prevention How can I prevent brittle bone disease? Because brittle bone disease is a genetic condition, you cannot prevent it. If you or your partner has OI or have a relative with the condition, speak with a genetic counselor. [my.clevelandclinic.org]