scholarly journals Severe cranial deformity following cerebrospinal fluid diversion in an adolescent with osteogenesis imperfecta

2018 ◽  
Vol 22 (4) ◽  
pp. 348-351
Author(s):  
Winson S. Ho ◽  
John A. Jane
Keyword(s):  
Osteogenesis Imperfecta ◽  
Surgical Intervention ◽  
Connective Tissue Disorder ◽  
Bone Fragility ◽  
Bleeding Diathesis ◽  
Titanium Mesh ◽  
Cerebrospinal Fluid Diversion ◽  
Cranial Deformity ◽  
Csf Diversion ◽  
Fluid Collections

Osteogenesis imperfecta (OI) is an inherited connective tissue disorder that causes bone fragility and deformity. Neurological manifestations, including macrocephaly and hydrocephalus, have been reported. Increased vascular fragility or bleeding diathesis also predisposes OI patients to intracranial hemorrhage. The development of chronic subdural fluid collections or hydrocephalus may require CSF diversion. The authors report a previously unrecognized complication of CSF diversion in a patient with OI, that is, a delayed severe cranial deformity, presumably due to over-shunting. In addition to the cosmetic concern, the deformity caused severe headaches and tenderness. The patient underwent craniectomy and titanium mesh cranioplasty, which resulted in the complete resolution of symptoms. This report raises the possibility that over-shunting in patients with OI could predispose to the formation of cranial deformity requiring surgical intervention.

scholarly journals Mobility in Osteogenesis Imperfecta: A Multicenter North American Study

2018 ◽  
Author(s):  
Karen M. Kruger ◽  
Angela Caudill ◽  
Mercedes Rodriguez Celin ◽  
Sandesh CS Nagamani ◽  
Jay R Shapiro ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Clinical Research ◽  
Patient Characteristics ◽  
Connective Tissue Disorder ◽  
Bone Fragility ◽  
Functional Mobility ◽  
Assessment Tools ◽  
Assistive Device ◽  
Type I ◽  
Mobility Limitations

BackgroundOsteogenesis imperfecta (OI) is a genetic connective tissue disorder characterized by increased bone fragility and recurrent fractures. The phenotypic severity of OI has a significant influence on the ability to walk but little is known about the ambulatory characteristics, strength, or functional abilities in individuals with OI, especially in the more severe forms. To advance clinical research in OI, the Linked Clinical Research Centers, network of clinical centers in North America with significant experience in treating patients with OI, was established in 2009. The purpose of this work was to characterize mobility in OI using standard clinical assessment tools. and determine if any patient characteristics could be used to predict mobility outcomes.MethodsData were collected at five clinical sites and included age, gender, ethnicity, height, weight, use of assistive device, and bisphosphonate use and mobility metrics (age at first walk, Gillette Functional Assessment Questionnaire, Functional Mobility Scale, and distance walked in the 6 minute walk test). Linear mixed models were developed to explore the relationships between subject demographics and mobility metrics.ResultsThe study identified 491 individuals age 3 and older. In general, the results showed minor limitations in the type I group while the more severe types showed more significant limitations in all mobility metrics analyzed. Height and weight were shown to be the most significant predictors of mobility metrics. Relationships with mobility and bisphosphonates varied with OI type and whether oral or IV was used.ConclusionThis paper is the most comprehensive report of mobility in individuals with OI to date. These results are vital to understanding the mobility limitations of specific types of OI and beneficial when developing rehabilitation protocols for this population. It is important for physicians, patients, and caregivers to gain insight into severity and classification of the disease and the influence of disease-related characteristics on the prognosis for mobility.

scholarly journals Perioperative Considerations in Osteogenesis Imperfecta: A 20-Year Experience with the Use of Blood Pressure Cuffs, Arterial Lines, and Tourniquets

Children ◽  
2020 ◽  
Vol 7 (11) ◽  
pp. 214
Author(s):  
Kirsten E. Ross ◽  
Joseph T. Gibian ◽  
Christy J. Crockett ◽  
Jeffrey E. Martus
Keyword(s):  
Blood Pressure ◽  
Osteogenesis Imperfecta ◽  
Hemodynamic Monitoring ◽  
Tertiary Care ◽  
Healthcare Providers ◽  
Patient Positioning ◽  
Connective Tissue Disorder ◽  
Bone Fragility ◽  
Arterial Line ◽  
Non Invasive

Osteogenesis imperfecta (OI) is a rare genetic connective-tissue disorder with bone fragility. To avoid iatrogenic fractures, healthcare providers have traditionally avoided using non-invasive blood pressure (NIBP) cuffs and extremity tourniquets in the OI population in the perioperative setting. Here, we hypothesize that these procedures do not lead to iatrogenic fractures or other complications in patients with OI. A retrospective study of all children with OI who underwent surgery at a single tertiary care children’s hospital from 1998 to 2018 was performed. Patient positioning and the use of NIBP cuffs, arterial lines, and extremity tourniquets were documented. Fractures and other complications were recorded. Forty-nine patients with a median age of 7.9 years (range: 0.2–17.7) were identified. These patients underwent 273 procedures, of which 229 were orthopaedic operations. A total of 246 (90.1%) procedures included the use of an NIBP cuff, 61 (22.3%) an extremity tourniquet, and 40 (14.7%) an arterial line. Pediatric patients with OI did not experience any iatrogenic fractures related to hemodynamic monitoring or extremity tourniquet use during the 20-year period of this study. Given the benefits of continuous intra-operative hemodynamic monitoring and extremity tourniquets, we recommend that NIBP cuffs, arterial lines, and tourniquets be selectively considered for use in children with OI.

scholarly journals Impact of Intrinsic Muscle Weakness on Muscle–Bone Crosstalk in Osteogenesis Imperfecta

2021 ◽  
Vol 22 (9) ◽  
pp. 4963
Author(s):  
Victoria L. Gremminger ◽  
Charlotte L. Phillips
Keyword(s):  
Skeletal Muscle ◽  
Osteogenesis Imperfecta ◽  
Muscle Weakness ◽  
Muscle Function ◽  
Critical Role ◽  
Connective Tissue Disorder ◽  
Bone Fragility ◽  
Skeletal Muscle Function ◽  
Skeletal Muscle Weakness

Bone and muscle are highly synergistic tissues that communicate extensively via mechanotransduction and biochemical signaling. Osteogenesis imperfecta (OI) is a heritable connective tissue disorder of severe bone fragility and recently recognized skeletal muscle weakness. The presence of impaired bone and muscle in OI leads to a continuous cycle of altered muscle–bone crosstalk with weak muscles further compromising bone and vice versa. Currently, there is no cure for OI and understanding the pathogenesis of the skeletal muscle weakness in relation to the bone pathogenesis of OI in light of the critical role of muscle–bone crosstalk is essential to developing and identifying novel therapeutic targets and strategies for OI. This review will highlight how impaired skeletal muscle function contributes to the pathophysiology of OI and how this phenomenon further perpetuates bone fragility.

P066 Orthopedic complications of osteogenesis imperfecta

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_5) ◽  
Author(s):  
Blel Ferdaous ◽  
Hachfi Haifa ◽  
Brahem Mouna ◽  
Mouhamed Younes
Keyword(s):  
Osteogenesis Imperfecta ◽  
Connective Tissue Disorder ◽  
Bone Fragility ◽  
Vitamin D Supplementation ◽  
Lower Limbs ◽  
Mineral Density ◽  
Vertebral Disc ◽  
Skeletal Complications ◽  
Intravenous Bisphosphonates

Abstract Background Osteogenesis imperfecta (OI) is an inherited connective tissue disorder including various skeletal manifestations. Bone fragility, vertebral body malformation and length lower limbs inequality are often responsible for orthopedic complications. The aim of our study was to determine orthopedic complications of OI and to specify management modalities in rheumatology. Methods We conduct a retrospective study based on the files of children referred to the rheumatology departement over the last 15 years, for treatment of OI. The evaluation was clinical and radiological. Clinical examination included joint and spine assessment. An X-ray of the spine and painful joints associated with a quantitative densitometry were requested. Results Five patients were collected, their mean age was 9 years. All patients had peripheral fracture. Joint assessment revealed a flessum of the elbow and a reduction of the motion of hip in 40% of cases. Scoliosis was noted also in 40% of cases. The average of spine Z –score was -3, 4. All children had benefited from oral calcium and vitamin D supplementation associated with cyclic intravenous bisphosphonates and an adapted rehabilitation protocol. Surgical management was often needed in 2 cases. Discussion and Conclusion Orthopedic complications during OI are essentially the consequence of lower bone mineral density which would cause peripheral or vertebral fracture. Indeed, some other factors like length inequality, pelvic obliquity, ligamentous laxity and inter-vertebral disc abnormalities could be involved in scoliotic progression. The management of these skeletal complications must be early and multidisciplinary in order to improve the prognosis and the quality of life of the patient

Osteogenesis imperfecta and pregnancy: case report

2014 ◽  
Vol 21 (1) ◽  
pp. 100-103
Author(s):  
Rūta Kisielienė ◽  
Rasa Kupčiūnaitė ◽  
Diana Bužinskienė ◽  
Gražina Drąsutienė
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
Mode Of Delivery ◽  
Connective Tissue Disorder ◽  
Bone Fragility ◽  
Type I ◽  
Physiological Changes ◽  
Pregnancy And Delivery ◽  
Type V

Osteogenesis imperfecta (OI) is a rare inherited connective tissue disorder, in which synthesis or structure of type I collagen is defective, causing reduced osseous density and increased bone fragility. There is presented a case report of type V osteogenesis imperfecta woman pregnancy and delivery, analyzed physiological changes during pregnancy, prenatal diagnosis, osteogenesis imperfecta influence to pregnancy and mode of delivery. Due to a vast variety of phenotype and insufficient data, individual analysis of each case and mode of delivery should be done by a multidisciplinary team. Osteogenesis imperfecta is an extragenital disorder and it‘s not a contraindication to pregnancy

scholarly journals Restoration of Osteogenesis by CRISPR/Cas9 Genome Editing of the Mutated COL1A1 Gene in Osteogenesis Imperfecta

2021 ◽  
Vol 10 (14) ◽  
pp. 3141
Author(s):  
Hyerin Jung ◽  
Yeri Alice Rim ◽  
Narae Park ◽  
Yoojun Nam ◽  
Ji Hyeon Ju
Keyword(s):  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
Disease Modeling ◽  
Bone Fragility ◽  
Osteogenic Potential ◽  
Type I ◽  
Gene Correction ◽  
Col1a1 Gene ◽  
Collagen Formation

Osteogenesis imperfecta (OI) is a genetic disease characterized by bone fragility and repeated fractures. The bone fragility associated with OI is caused by a defect in collagen formation due to mutation of COL1A1 or COL1A2. Current strategies for treating OI are not curative. In this study, we generated induced pluripotent stem cells (iPSCs) from OI patient-derived blood cells harboring a mutation in the COL1A1 gene. Osteoblast (OB) differentiated from OI-iPSCs showed abnormally decreased levels of type I collagen and osteogenic differentiation ability. Gene correction of the COL1A1 gene using CRISPR/Cas9 recovered the decreased type I collagen expression in OBs differentiated from OI-iPSCs. The osteogenic potential of OI-iPSCs was also recovered by the gene correction. This study suggests a new possibility of treatment and in vitro disease modeling using patient-derived iPSCs and gene editing with CRISPR/Cas9.

scholarly journals Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 124
Author(s):  
Dina Nadyrshina ◽  
Aliya Zaripova ◽  
Anton Tyurin ◽  
Ildar Minniakhmetov ◽  
Ekaterina Zakharova ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Bone Fragility ◽  
Molecular Architecture ◽  
Inherited Disease ◽  
Republic Of Bashkortostan ◽  
The Republic

Osteogenesis imperfecta (OI) is an inherited disease of bone characterized by increased bone fragility. Here, we report the results of the molecular architecture of osteogenesis imperfecta research in patients from Bashkortostan Republic, Russia. In total, 16 mutations in COL1A1, 11 mutations in COL1A2, and 1 mutation in P3H1 and IFIMT5 genes were found in isolated states; 11 of them were not previously reported in literature. We found mutations in CLCN7, ALOX12B, PLEKHM1, ERCC4, ARSB, PTH1R, and TGFB1 that were not associated with OI pathogenesis in patients with increased bone fragility. Additionally, we found combined mutations (c.2869C>T, p. Gln957* in COL1A1 and c.1197+5G>A in COL1A2; c.579delT, p. Gly194fs in COL1A1 and c.1197+5G>A in COL1A2; c.2971G>C, p. Gly991Arg in COL1A2 and с.212G>C, p.Ser71Thr in FGF23; c.-14C>T in IFITM5 and c.1903C>T, p. Arg635* in LAMB3) in 4 patients with typical OI clinic phenotypes.

scholarly journals Osteogenesis Imperfecta and Extra-/Intradural Hematomas: A Case Report and Review of the Literature

2018 ◽  
Vol 07 (04) ◽  
pp. 185-190
Author(s):  
Emrah Celtikci ◽  
Onur Ozgural ◽  
Umit Eroglu ◽  
Yusuf Caglar ◽  
Fatih Yakar
Keyword(s):  
Osteogenesis Imperfecta ◽  
Epidural Hematoma ◽  
Skull Fracture ◽  
Bleeding Diathesis ◽  
Review Of The Literature ◽  
Life Threatening ◽  
Brittle Bone Disease ◽  
Platelet Defects ◽  
Threatening Situation ◽  
Management Challenge

AbstractOsteogenesis imperfecta, also named as brittle bone disease, is characterized by fragile bones and short stature caused by mutations in the collagen gene. Subdural and intraparenchymal hematomas are defined and associated with trauma, vascular causes, and systemic bleeding diathesis. Skull fragility may lead to epidural hematoma, which is a life-threatening situation. Vascular fragility and intrinsic platelet defects are the causes of bleeding in patients with osteogenesis imperfecta, which is a major management challenge for neurosurgeons. Here, we reported on a 5-year-old boy with osteogenesis imperfecta with epidural hematoma and skull fracture following a trivial trauma, and made a literature review of 28 cases with extra-/intradural hematoma.

scholarly journals Oral manifestations and rehabilitation of a patient with osteogenesis imperfecta

2021 ◽  
pp. 83-83
Author(s):  
Milena Milanovic ◽  
Milos Beloica ◽  
Olivera Jovicic ◽  
Zoran Mandinic ◽  
Bojan Janjic ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Alveolar Bone ◽  
Dental Treatment ◽  
Glass Ionomer Cement ◽  
Signs And Symptoms ◽  
Panoramic Radiograph ◽  
Connective Tissue Disorder ◽  
Dentinogenesis Imperfecta ◽  
Bony Tissue ◽  
Severe Deficiency

Introduction. Osteogenesis imperfecta is a rare heritable connective tissue disorder characterized by increased fragility of the bony tissue. The incidence of orofacial alterations associated with osteogenesis imperfecta is variable and includes dentinogenesis imperfecta, malocclusions, hypoplasia of the jaws, delayed dental development and structural abnormalities of the teeth. Case outline. A 22-year-old girl was referred to the Clinic for Pediatric and Preventive Dentistry for dental treatment. Enlarged head, triangular-shaped face, mandibular prognathism with excessive maxillary hypoplasia, lowered vertical occlusal dimension were present features. The intraoral findings included dentinogenesis imperfecta with Kennedy?s class IV in the upper jaw and class II in the lower jaw. Panoramic radiograph revealed abnormalities in crown and root shape, obliteration of the pulp chamber and severe deficiency of alveolar bone mass. Overall treatment involved five phases: I - Preventive and prophylactic treatment, II - Direct restauration of five teeth with glass ionomer cement, III - Extraction of severely damaged teeth, IV - Prosthodontic rehabilitation with removable partial dentures, V - Maintenance and follow-up phase. Conclusion. Low prevalence and wide variety of signs and symptoms make dental treatment of osteogenesis imperfecta overly complex and challenging. Nevertheless, it is essential to improve craniofacial and dental function along with facial aesthetic.

scholarly journals Osteogenesis imperfecta: a case report

2014 ◽  
Vol 43 (1) ◽  
pp. 30-32
Author(s):  
Ratu Rumana Binte Rahman ◽  
Shamasunnahar Begum
Keyword(s):  
Osteogenesis Imperfecta ◽  
Pulmonary Hypoplasia ◽  
Bone Fragility ◽  
Lower Limbs ◽  
Inherited Disease ◽  
Multiple Fractures ◽  
X Ray ◽  
Medical College ◽  
Minimal Trauma ◽  
Hallmark Feature

Osteogenesis Imperfecta is a inherited disease of connective tissue. Its hallmark feature is bone fragility with a tendency to fracture from minimal trauma or from the work of bearing weight against gravity. The disorder may occur in one out of 20,000 to one out of 60,000 live births, affecting both male and female of all races. We present a 38 year lady who gave birth to baby with osteogenesis imperfecta in Sir Salimullah Medical College & Mitford Hospital, Dhaka. Both lower limbs appeared shortened with thick musculo-cutaneous folds. Both the femoral shafts were shortened, deformed and fragmented. Both the humeral and fibular shafts were deformed and the presentation was breech. Her sclerae was blue. X-ray showed multiple fractures in humerus, femur and ribs and also right sided pulmonary hypoplasia. DOI: http://dx.doi.org/10.3329/bmj.v43i1.21376 Bangladesh Med J. 2014 January; 43 (1): 30-32

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