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

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

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]

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]

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]

• Atrial Septal Defect

  Cardiovascular manifestations in the form of valvular heart disease, aortic dilatation, atrial septal defect, and septal and left ventricular posterior wall thickening have been reported in several cases of OI including type 3 [11,34-38]. [cureus.com]

• Regurgitation

  Non-skeletal features of the disorder include blue sclerae, hearing loss, decreased pulmonary function, cardiac valvular regurgitation, and muscle weakness. [jocr.co.in]

  The cardiac ultrasound showed mild mitral and tricuspid valve regurgitation with an ejection fraction of 66%. [cureus.com]

  […] skull bones (puzzle piece intrasutural skull bones) hypermetabolism increased risk of malignant hyperthermia hyperhidrosis, tachycardia, tachypnoea, heat intolerance thin skin prone to subcutaneous hemorrhage cardiovascular mitral valve prolapse aortic regurgitation [orthobullets.com]

  […] component Dental May need orthodontic work for maloculsion Other dental considerations for dentinogenesis imperfecta Cardiovascular Aortic root dilatation (12% of all affected individuals 28% in type III) No standard regimen for evaluation Aortic and mitral regurgitation [en.wikibooks.org]

  Fractures are mostly prepubertal, associated with extraskeletal defects of blue sclera, presenile deafness, and aortic regurgitation. X-ray features Skull shows Wormian bones and back reveals codfish vertebrae (adults). [ijem.in]

• Tachycardia

  A study conducted by Thiele et al. identified five OI type 3 patients with impaired cardiac function on the ECG (sinus tachycardia, sinus tachycardia with Q wave, etc.) [11]. [cureus.com]

  […] undergoing coronary artery bypass grafting, spinal fusion, and hip surgery have varied in their methodology and outcome. 13–16 The adverse effects associated with the use of desmopressin are few. 3 They include facial flushing, headache, hypotension, tachycardia [anesthesiology.pubs.asahq.org]

  alteration in dentin brown/blue teeth, soft, translucent, prone to cavities affects primary teeth > secondary teeth wormian skull bones (puzzle piece intrasutural skull bones) hypermetabolism increased risk of malignant hyperthermia hyperhidrosis, tachycardia [orthobullets.com]

• Prognathism

  Mandibular prognathism was aJso present. Due to non-cooperation from CPT 6, it was impossible to obtain dental radiographs. [scielo.org.za]

  Her mandible is prognathic (arrow). An edge to edge bite can be observed in children who have only their primary dentition. [nature.com]

• Malocclusion

  This occlusal observation is significant as it often tends to progress to an adult Class III dental malocclusion and a potential skeletal Class III malocclusion. [nature.com]

  Each of these individuals had massive mandibular prognathism with dental and skeletal Class III malocclusions. In South Africa, a developing country, the allocation of resources in terms of specialized dental facilities is limited. [scielo.org.za]

  Abnormal dentin leading to the appearance of small deformed teeth and which are opalescent due to a higher ratio of transparent enamel to opaque dentin is called dentinogenesis imperfecta and along with malocclusion are the major dental abnormalities. [ijem.in]

• Anterior Open Bite

  Her anterior teeth are splayed (proclined). Figure 4 An intraoral picture of PMB 1. She has an anterior open bite (1) and a posterior cross bite (2). [nature.com]

  At 28 years of age, they had prominent mandibular prognathism, an anterior open bite, severe Dl and interdental calculus (Figure 8). A panorex radiograph obtained in 2011 of CPT 5 showed features of severe Dl (Figure 9). [scielo.org.za]

• Tooth Loss

  Dentinogenesis imperfecta can result in teeth chipping and cracking, accelerated dental decay, and tooth loss. [jci.org]

  Hadju-Cheney syndrome Hadju-Cheney syndrome (OMIM 102500) is characterized by short stature, failure to thrive, conductive hearing loss, dysmorphic features, early tooth loss, genitourinary anomalies, osteopenia, pathologic fractures, wormian bones, failure [nature.com]

• Premature Loss of Teeth

  loss of teeth, wormian bones and open cranial sutures. [nature.com]

• Osteopenia

  O Reduction of height of vertebral bodies and osteopenia. P Bowing of humeri without rhizomelic shortening, osteopenia. Q Shortening and narrowing of iliac bones, hip subluxation, old fractures of femurs. [karger.com]

  Radiographic findings of type 2 OI consist of osteopenia of the skull with disturbance of intramembranous ossification, platyspondyly, small beaded ribs, severely deformed extremities and broad, crumpled, bent femurs [1-3]. [eurorad.org]

  With this picture and a child presenting with multiple bone fractures with hyperplasic callus formation, generalized osteopenia and normal serum biochemical parameters, the diagnosis of osteogenesis imperfecta type V was made. [jpgmonline.com]

  The major clinical manifestations are atypical skeletal development, osteopenia (a medical condition in which the protein and mineral content of bone tissue is reduced), multiple painful fractures and short stature, but OI individuals also suffer from [boostb4.eu]

• Long Legs

  At that time, she walked with the aid of long leg callipers and crutches (Figure 1) and she had minimal bluing of the sclerae. In 2014, person CPT 2 was re-examined by one of the authors and her clinical manifestations were documented. [scielo.org.za]

• Mandibular Prognathism

  Mandibular prognathism was aJso present. Due to non-cooperation from CPT 6, it was impossible to obtain dental radiographs. [scielo.org.za]

• Neglect

  The previously neglected dental and craniofacial abnormalities documented in this study emphasizes the importance of a raised level of awareness in terms of dental management and the possible challenges that may be encountered. [scielo.org.za]

  [Guideline] Kellogg ND, American Academy of Pediatrics Committee on Child Abuse and Neglect. Evaluation of suspected child physical abuse. Pediatrics. 2007 Jun. 119 (6):1232-41. [Medline]. [Full Text]. [emedicine.medscape.com]

  59.57˚, fractures of the 10th, 11th, and 12th right ribs, protrusion of the acetabular roof projecting toward the pelvis, fracture of the right femoral head, opacification of the growth plate of the left femoral head associated with coxa magna, and neglected [cureus.com]

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]

• Increased Bone Density

  […] services offered at the clinic include the following: Biochemical testing Genetic analysis and counseling Growth parameters Referrals for bone densitometry, a noninvasive technique that measures bone density State-of-the-art treatment aimed at increasing [kennedykrieger.org]

  Maximizing a person’s strength and function not only improves overall health and wellbeing, but also improves bone health, as mechanical stresses and muscle tension on bone help increase bone density. eg, deformities such as a flattened skull, a lordotic [physio-pedia.com]

  […] children with severe OI Results showed increased bone density, reduction in bone pain, increased motility and decreased incidence of fractures Only side effect was mild fever in 87% of children on second day of first treatment - did not occur again Small [en.wikibooks.org]

  Bisphosphonates strengthen the bone by increasing bone density and correcting the imbalance between bone reabsorption and bone formation which occurs in OI. [gosh.nhs.uk]

  bone density. 2, 4, 11 Giving pamidronate intravenously every 1 to 4 months was found to decrease bone pain and increase bone mass and density. 16 Although pamidronate seems to be promising for moderate to severe OI, it is most beneficial if given early [nursingcenter.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]

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

The study site pharmacist will be unmasked to treatment allocation throughout. Study treatment will be monitored by a separate unmasked monitoring team. [clinicaltrials.gov]

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

The response to BP treatment is frequently reported as 1 or 2 years post-treatment. Fracture rate over several years during and after treatment is not reported. [link.springer.com]

Prognosis - Osteogenesis imperfecta- type 5 The prognosis for an individual with OI varies greatly depending on the number and severity of symptoms. [checkorphan.org]

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

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]

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]

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. 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. 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]

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]

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]