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Osteogenesis Imperfecta Type 2

Brittle Bone Disease


Presentation

  • The thanatophoric dysplasia presented less bowed long bones, and never true angulation. The spine was steadily characterized by flattened anterior vertebral bodies.[ncbi.nlm.nih.gov]
  • 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]
Inguinal Hernia
  • The disease is characterized by short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclerae (whites of the eyes, small nose, low nasal bridge, inguinal hernia and numerous bone fractures at birth.[medicinenet.com]
  • Affected individuals exhibit short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclera, whites of the eyes, small nose, low nasal bridge, inguinal hernia and numerous bone fractures at birth.[writerightmel.wordpress.com]
  • The symptoms of Type II Osteogenesis Imperfecta can vary, but common symptoms of the disease include severe bone fragility, short limbs, think skin, a small nose, a low nasal bridge, inguinal hernia, a soft skull, trouble breathing, and a bowing of the[disability-benefits-help.org]
Collapse
  • Furthermore, they did not show any evidence of vertebral collapse. The thanatophoric dysplasia presented less bowed long bones, and never true angulation. The spine was steadily characterized by flattened anterior vertebral bodies.[ncbi.nlm.nih.gov]
  • When the accompanying potential financial struggles are added in, suddenly the world feels as though it is collapsing around you.[disabilitybenefitscenter.org]
Sudden Infant Death Syndrome
  • However, he died unexpectedly at 6 weeks of age with the cause of death being attributed to sudden infant death syndrome (SIDS). Necropsy showed abnormal rib morphology with anterior flaring and evidence of a healing left femoral fracture.[jmg.bmj.com]
Mild Clinical Course
  • clinical course can follow when angulated femora are detected in early pregnancy or at birth.[jmg.bmj.com]
Saber Shin
  • shin appearance of tibia dental abnormalities (brown, opalescent teeth) Evaluation Diagnosis made by clinical and radiographic findings (skeletal survey) Confirmed with DNA (blood or saliva) or protein testing (skin biopsy) Differential Non-accidental[medbullets.com]
  • shins skull radiographs reveal wormian bones coxa vara Evaluation Labroratory mildly elevated ALP Histology increased diameter of haversion canals and osteocyte lacunae replicated cement lines increased number of osteoblasts and osteoclasts decreased[orthobullets.com]
Short Humerus
  • The Child will be shorter or of less than average height for their age, with short humerus and femur. The child will have a fracture when learning to walk.[news-medical.net]
  • Short humerus (arm bone) and short femur (upper leg bone) Coxa vera is common (the acutely angled femur head affects the hip socket). Results from recessive inheritance of a mutation to the CRTAP (cartilage-associated protein) gene.[oif.org]
Hearing Impairment
  • In some cases, individuals with OI type I may develop abnormalities affecting the middle and/or inner ears contributing to, or resulting in, hearing impairment (i.e., conductive and/or sensorineural hearing loss).[rarediseases.org]
  • In general, four major clinical features characterize osteogenesis imperfecta 5 : osteoporosis with abnormal bone fragility blue sclera dentinogenesis imperfecta hearing impairment Other features include ligamentous laxity and hypermobility of joints,[radiopaedia.org]
  • impairment Deafness Hearing defect [ more ] 0000365 Kyphosis Hunched back Round back [ more ] 0002808 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Multiple prenatal fractures Multiple fractures present at birth Multiple fractures[rarediseases.info.nih.gov]

Workup

  • Osteogenesis Imperfecta: Differential Diagnosis & Workup. . Website updated: 2008. Website accessed: April 5, 2010. Gahagan S, Rimsza ME. Child Abuse or Osteogenesis Imperfecta: How Can We Tell?. Journal of Pediatrics; 88(5): 987-992. 1991.[physio-pedia.com]
  • Establishing a diagnosis As with any disorder, a detailed history is a crucial element of the diagnostic workup.[nature.com]

Treatment

  • Treatment Currently, there is no known cure for osteogenesis imperfecta. The primary focus of treatment is on preventing injuries and maintaining healthy bones.[verywell.com]
  • The affected child received further treatment initially stationary, later as an ambulant patient.[degruyter.com]
  • Treatment There is no cure for brittle bone disease, but treatment can relieve symptoms, prevent breakage of bones, and maximize movement.[webmd.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • , Prevention, and Complications Prognosis recurrent fractures no cure for disease Prevention screening for mutation in family members prenatal screening with chorionic villus sampling Complications recurrent fractures leads to deformity and chronic pain[medbullets.com]
  • 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 parents opted to interrupt the pregnancy, based on the diagnosis of a lethal skeletal dysplasia and the associated poor prognosis. The fetus was delivered at 25 weeks’ gestation.[sajr.org.za]
  • Prognosis - Osteogenesis imperfecta- type 6 The prognosis for an individual with OI varies greatly depending on the number and severity of symptoms.[checkorphan.org]

Etiology

  • Etiology OI type IIA is caused by mutations of the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) and transmission is autosomal dominant.[orpha.net]
  • However, these disorders, while clinically sharing some features of true OI, are better designated as separate conditions based on their unique molecular etiologies. Treatment Treatment Options: Avoidance of trauma is paramount.[disorders.eyes.arizona.edu]

Epidemiology

  • Summary Epidemiology The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type II is unknown.[orpha.net]
  • Epidemiology The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type II is unknown.[rarediseases.info.nih.gov]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • 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]
  • This classification scheme is likely to change with additional research on pathophysiology of OI.[nature.com]
  • A multidisciplinary approach is required to manage the disease. [1, 2, 3] Pathophysiology In OI, pathologic changes are seen in all tissues of which type 1 collagen is an important constituent (eg, bone, ligament, dentin, and sclera).[emedicine.medscape.com]

Prevention

  • 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]
  • Broken bones in children with osteogenesis imperfecta are often treated with surgery in order to stabilize the bones and prevent deformities.[verywell.com]
  • , and Complications Prognosis recurrent fractures no cure for disease Prevention screening for mutation in family members prenatal screening with chorionic villus sampling Complications recurrent fractures leads to deformity and chronic pain may result[medbullets.com]
  • Treatment There is no cure for brittle bone disease, but treatment can relieve symptoms, prevent breakage of bones, and maximize movement.[webmd.com]
  • These are used to prevent deformity and promote support or protection.[chop.edu]

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