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(Lobsteins disease)
5,610 results
  • Maxillary Distraction Osteogenesis in a Patient With Osteogenesis Imperfecta. [Journal Article]
    J Craniofac Surg 2019Kunkel R, Kim E, … Gociman B
  • Osteogenesis imperfecta (OI) is characterized by brittle bones, premature hearing loss, blue sclera, dental abnormalities, and short stature. Maxillofacial pathology is marked in many OI patients and includes a high incidence of class III malocclusion secondary to a retrusive maxilla relative to both the mandible and cranial base.Review of literature shows that most of the orthognathic surgeries …
  • Acetabular Protrusio in Patients With Osteogenesis Imperfecta: Risk Factors and Progression. [Journal Article]
    J Pediatr Orthop 2019 Nov/Dec; 39(10):e750-e754Ahn J, Carter E, … Green DW
  • CONCLUSIONS: AP is a common finding in OI patients (54%). Among hips of OI patients that met criteria for AP in early radiographs, 42% (20/48) demonstrated greater CE angles in their latest radiographs. Similar changes were observed in OI patients who did not initially meet criteria for diagnosis for AP. However, CE angle measurements between the 2 groups did not significantly differ (P=0.71). In terms of Kohler line crossing, patients that met criteria for AP in early radiographs had significantly greater change per year than those that did not have AP criteria (P<0.05). The findings suggest AP may develop over time in patients with OI and may be influenced by patient factors such as age, sex, and BMI. In addition, unilateral AP may have a significant impact on the development of AP of the contralateral hip.
  • Early Pediatric Fractures in a Universally Insured Population within the United States. [Journal Article]
    BMC Pediatr 2019; 19(1):343Wolfe JA, Wolfe H, … Perez Koehlmoos T
  • CONCLUSIONS: Fractures are common injuries in young children with an incidence over the first 5 years of life of 5.86%. Multiple risk factors were also identified including age, race, geographic location and socioeconomic status. The results of this study are an important contribution to epidemiologic and public health literature and serve to characterize the incidence of and risk factors for sustaining an early childhood fracture.
  • Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. [Journal Article]
    Am J Hum Genet 2019; 105(4):836-843Moosa S, Yamamoto GL, … Netzer C
  • Osteogenesis imperfecta (OI) comprises a genetically heterogeneous group of skeletal fragility diseases. Here, we report on five independent families with a progressively deforming type of OI, in whom we identified four homozygous truncation or frameshift mutations in MESD. Affected individuals had recurrent fractures and at least one had oligodontia. MESD encodes an endoplasmic reticulum (ER) ch…
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