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Osteogenesis Imperfecta Type 13

Brittle Bone Disease


  • 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]
  • He is Executive Advisory Editor of Bone Research (2013-present).[books.google.com]
  • OI in an individual is present from the time of conception. In some people, mostly those with milder OI, the disorder passes from one generation to another.[netdoctor.co.uk]
  • 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]
  • 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]
  • Case Presentation A 2-days-old newborn female of African descent was referred to our institution from a private facility due to abnormal body posture and excessive crying.[kenkyugroup.org]
  • Patient discussion about osteogenesis imperfecta Q. is their any way to cure osteogenesis imperfecta my son has this bone disorder and can;t stand to see him cry thank you for any help A. as far as i know- OI is a genetic problem. today there is no cure[medical-dictionary.thefreedictionary.com]
  • Additionally, OI patients may display a wide range of multi-systemic features including; constipation, dental problems, hearing loss, neurological disorders, ocular anomalies, respiratory and swallowing difficulties [1].[kenkyugroup.org]
  • This cause usually results in a child with type III OI. [3] Systemic Involvement Gastrointestinal Constipation that may be caused due to pelvic asymetry in more serious forms of OI.[physio-pedia.com]
  • […] 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 laxity Growth retardation Additional features, such as constipation[emedicine.medscape.com]
  • Other medical problems consequent on immobility, such as constipation, will also require appropriate management.[dovepress.com]
  • Although complaints of constipation are common in adults with OI who are mobile in wheelchairs, it is not clear if this is a complication of OI itself or of the mode of transport.[ncbi.nlm.nih.gov]
Heart Disease
  • Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity[books.google.com]
  • Keine Notizen für die Folie (Source-Denhart-233)Stroke: 3rd leading cause of death in United States (after heart disease cancer); 2nd leading cause of death due to cardiovascular disease in U.S.; 2nd leading cause of death in patients 75 years of age;[de.slideshare.net]
  • Valvular heart disease in osteogenesis imperfecta. Am Heart J. 1977; 94 :637–41. [ PubMed : 143883 ] Steiner RD, Pepin M, Byers PH. Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta.[ncbi.nlm.nih.gov]
Bowing of The Long Bones
  • Radiologically, presence of generalized osteoporosis, thin cortices and bowing of the long bones, multiple cystic areas, codfish vertebra, and wormian bones are characteristic findings [1].[kenkyugroup.org]
  • Management options for non-lethal types include: surgical correction of deformities and the prevention of fractures intramedullary rods with osteotomy are used to correct severe bowing of the long bones intramedullary rods are also recommended for children[radiopaedia.org]
  • The bones in OI Type 1 are normally modeled, usually with no bowing of the long bones, and central vertebral compressions are uncommon [7, 8, 9].[jocr.co.in]
  • Bowing of the long bones is common, but to a lesser extent than in Type III. The sclerae are often light blue in infancy, but the color intensity varies. The sclerae may lighten to white later in childhood or early adulthood.[oif.org]
Hearing Problem
  • 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]
Cesarean Section
  • She was born to a 28 years old primigravida by elective cesarean section at 36 weeks gestation due to breech presentation. She weighed 2,380 grams and had an Apgar score of 8/10 and 9/10 at one and five minutes respectively.[kenkyugroup.org]
  • Delivery of an infant with OI by cesarean section or by vagina has about the same rate of complications for each type of OI.[ncbi.nlm.nih.gov]
  • Case Description Case 1 The boy was born from non-consanguineous parents at term by cesarean section without perinatal problem. He could sit alone at 9 months and walk alone at 12 months.[raredisorders.imedpub.com]
  • The patient was born by cesarean section with polyhydramnios at the 39th week of gestation with a birth weight of 2800 g, length of 48 cm, and head circumference of 35 cm.[jocr.co.in]


  • 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]


  • 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]
  • Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity[books.google.com]
  • (A) Before start of treatment. (B) After two years treatment.[adc.bmj.com]
  • 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]


  • 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]
  • Prognosis The lifespan of people with OI types I, III, and IV is not generally shortened.[healthofchildren.com]
  • Prognosis Lifespan for people with OI Type I, III, and IV is not generally shortened.[medical-dictionary.thefreedictionary.com]


  • 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]
  • (Etiology) An error in gene mutation leading to deficient body production of collagen (a naturally-occurring protein found in tissues, ligaments, cartilages, and bones) causes Osteogenesis Imperfecta.[dovemed.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]
  • According to the latest clinical epidemiology, it is one of the most common skeletal dysplasia groups (0.74–0.79 per 10,000 birth) [6], [7].[journals.plos.org]
  • Epidemiology The overall incidence of OI is approximately 1 case for every 20,000 live births; however, the mild form is underdiagnosed, and the actual prevalence may be higher.[emedicine.medscape.com]
  • In 1979, Sillence et al. conducted an epidemiological and genetic study of OI patients [ 1 ].[journalimplantdent.springeropen.com]
Sex distribution
Age distribution


  • Pathophysiology of atypical femoral fractures and osteonecrosis of the jaw. Osteoporos Int. 2011; 22 :2951–61. 4. Carulli C, Innocenti M, Brandi ML. Bone vascularization in normal and disease. Front Endocrinol. 2013; 4 :106. 5. Glorieux FH.[ccmbm.com]
  • 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). The basic defect is one of a qualitative or quantitative reduction in type 1 collagen.[emedicine.medscape.com]
  • The pathophysiology for OI type I is characterized by mutations in the genes for proα1 chains on COL1A1 on chromosome 17 or for proα2 chains on COL1A2 on chromosome 7 [ 4 ].[journalimplantdent.springeropen.com]
  • Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep . 2007; 5(3):91–97. doi:10.1007/s11914-007-0023-z [CrossRef] Yao X, Carleton SM, Kettle AD, Melander J, Phillips CL, Wang Y.[healio.com]


  • This bone loss can be prevented with hormone replacement therapy (HRT) . Because people with OI already have bones that are prone to fractures, women with OI should consider taking HRT from approximately the time of the menopause .[netdoctor.co.uk]
  • Bisphosphonates for the prevention of fractures in osteogenesis imperfecta: meta-analysis of placebo-controlled trials. J Bone Miner Res. 2015; 30 :929–33. 7. Shi CG, Zhang Y, Yuan W.[ccmbm.com]
  • At the end of surgery, closure of the sclerotomy wounds with partial-thickness scleral sutures requires care to prevent perforation.[jamanetwork.com]
  • However, bisphosphonates are less effective for preventing long-bone fractures. At the moment, new therapies are under investigation. Despite advances in the diagnosis and treatment of osteogenesis imperfecta, more research is needed.[journals.lww.com]

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