eMedicine Specialties > Radiology > Pediatrics

Osteogenesis Imperfecta: Multimedia

Author: Anish Kirpalani, MD, Consulting Radiologist, Texas Radiology Associates, LLP
Coauthor(s): Paul S Babyn, MD, Associate Professor, Department of Medical Imaging, University of Toronto; Radiologist-in-Chief, Department of Diagnostic Imaging, The Hospital for Sick Children
Contributor Information and Disclosures

Updated: Aug 5, 2008

Multimedia

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Media file 1: Frontal radiograph of the leg in a patient with type I osteogenesis imperfecta (OI) shows evidence of severe osteoporosis, overtubulation of both the tibia and fibula, and a healing fracture of the transverse diaphyseal of the tibia. Also note the multiple metaphyseal growth recovery lines about the knee in this patient who was treated with pamidronate.

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Frontal radiograph of the leg in a patient with type I osteogenesis imperfecta (OI) shows evidence of severe osteoporosis, overtubulation of both the tibia and fibula, and a healing fracture of the transverse diaphyseal of the tibia. Also note the multiple metaphyseal growth recovery lines about the knee in this patient who was treated with pamidronate.

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Media file 2: Frontal radiograph of the forearm in a 17-year-old female adolescent with type I osteogenesis imperfecta (OI) shows osteoporosis, bowing deformities with overtubulation of the radius, a healed ulnar fracture, and callus formation over the distal humerus. Growth-recovery lines are present in the distal radius.

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Frontal radiograph of the forearm in a 17-year-old female adolescent with type I osteogenesis imperfecta (OI) shows osteoporosis, bowing deformities with overtubulation of the radius, a healed ulnar fracture, and callus formation over the distal humerus. Growth-recovery lines are present in the distal radius.

$Healing fracture of the left humeral diaphysis wi...$

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Media file 3: Healing fracture of the left humeral diaphysis with callus formation in a patient with osteogenesis imperfecta (OI).

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$Healing fracture of the left humeral diaphysis wi...$

Healing fracture of the left humeral diaphysis with callus formation in a patient with osteogenesis imperfecta (OI).

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Media file 4: Lateral radiograph of the skull in a young female patient with type III osteogenesis imperfecta (OI) demonstrates multiple wormian bones.

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Lateral radiograph of the skull in a young female patient with type III osteogenesis imperfecta (OI) demonstrates multiple wormian bones.

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Media file 5: Osteogenesis imperfecta (OI). Corresponding anteroposterior radiograph of the skull in the same patient as in Image 4 demonstrates multiple wormian bones.

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Osteogenesis imperfecta (OI). Corresponding anteroposterior radiograph of the skull in the same patient as in Image 4 demonstrates multiple wormian bones.

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Media file 6: Frontal radiograph of the pelvis in a 9-year-old girl with type III osteogenesis imperfecta (OI) and bilateral healing femoral fractures. Multiple growth-recovery lines are present in the femoral heads bilaterally after bisphosphonate treatment. Scoliosis and squared iliac bones are also demonstrated.

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Frontal radiograph of the pelvis in a 9-year-old girl with type III osteogenesis imperfecta (OI) and bilateral healing femoral fractures. Multiple growth-recovery lines are present in the femoral heads bilaterally after bisphosphonate treatment. Scoliosis and squared iliac bones are also demonstrated.

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Media file 7: Frontal radiograph in a patient with type III osteogenesis imperfecta (OI) with severe S-shaped scoliosis of the thoracolumbar spine.

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Frontal radiograph in a patient with type III osteogenesis imperfecta (OI) with severe S-shaped scoliosis of the thoracolumbar spine.

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Media file 8: Lateral spinal radiograph in a 1-year-old boy with osteogenesis imperfecta (OI) demonstrates multilevel, mild platyspondyly.

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Lateral spinal radiograph in a 1-year-old boy with osteogenesis imperfecta (OI) demonstrates multilevel, mild platyspondyly.

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Media file 9: Sagittally reconstructed CT scan of the cervical spine in a 16-year-old female adolescent with type IV osteogenesis imperfecta (OI). Image demonstrates mild basilar invagination, with the tip of the dens above the McGregor line (red).

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Sagittally reconstructed CT scan of the cervical spine in a 16-year-old female adolescent with type IV osteogenesis imperfecta (OI). Image demonstrates mild basilar invagination, with the tip of the dens above the McGregor line (red).

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Media file 10: Midline sagittal T2-weighted MRI through the cervical spine in the same patient as in Image 9. Image demonstrates mild stenosis at the foramen magnum, caused by basilar invagination (effective width of foramen magnum denoted by red line).

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Midline sagittal T2-weighted MRI through the cervical spine in the same patient as in Image 9. Image demonstrates mild stenosis at the foramen magnum, caused by basilar invagination (effective width of foramen magnum denoted by red line).

More on Osteogenesis Imperfecta

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Multimedia: Osteogenesis Imperfecta

References

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References

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Hasegawa K, Kataoka K, Inoue M, Seino Y, Morishima T, Tanaka H. Impaired pyridinoline cross-link formation in patients with osteogenesis imperfecta. J Bone Miner Metab. 2008;26(4):394-9. [Medline].
Brusin JH. Osteogenesis imperfecta. Radiol Technol. Jul-Aug 2008;79(6):535-48. [Medline].
Burnei G, Vlad C, Georgescu I, Gavriliu TS, Dan D. Osteogenesis imperfecta: diagnosis and treatment. J Am Acad Orthop Surg. Jun 2008;16(6):356-66. [Medline].
Cheung MS, Glorieux FH. Osteogenesis Imperfecta: update on presentation and management. Rev Endocr Metab Disord. Jun 2008;9(2):153-60. [Medline].
Tainmont J. History of osteogenesis imperfecta or brittle bone disease: a few stops on a road 3000 years long. B-ENT. 2007;3(3):157-73. [Medline].
Ablin DS. Osteogenesis imperfecta: a review. Can Assoc Radiol J. Apr 1998;49(2):110-23. [Medline].
Cole WG. Advances in osteogenesis imperfecta. Clin Orthop. Aug 2002;6-16. [Medline].
Glorieux FH, Rauch F, Plotkin H, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. Sep 2000;15(9):1650-8. [Medline].
Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. Apr 1979;16(2):101-16. [Medline].
Paterson CR, Ogston SA, Henry RM. Life expectancy in osteogenesis imperfecta. BMJ. Feb 10 1996;312(7027):351. [Medline].
Subramaniam P, Mathew S, Sugnani SN. Dentinogenesis imperfecta: A case report. J Indian Soc Pedod Prev Dent. Apr-Jun 2008;26(2):85-7. [Medline].
Kornblum M, Stanitski DF. Spinal manifestations of skeletal dysplasias. Orthop Clin North Am. Jul 1999;30(3):501-20. [Medline].
Sillence D. Osteogenesis imperfecta: an expanding panorama of variants. Clin Orthop. Sep 1981;11-25. [Medline].
Kirks DR, ed. Musculoskeletal System. Practical Pediatric Imaging: Diagnostic Radiology of Infants and Children. 3rd ed. 1998: 362-3.
Taybi H, Lachman RS. Osteogenesis Imperfecta. Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias, 4th ed. 1996: 876-82.
Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, et al. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis. Am J Med Genet A. Jul 14 2008;[Medline].
Radfar L, Masood F. Bisphosphonates, osteonecrosis of the jaw, and dental treatment recommendations. J Okla Dent Assoc. Apr-May 2008;99(7):28-9. [Medline].
el-Sobky MA, Hanna AA, Basha NE, Tarraf YN, Said MH. Surgery versus surgery plus pamidronate in the management of osteogenesis imperfecta patients: a comparative study. J Pediatr Orthop B. May 2006;15(3):222-8. [Medline].
DiMeglio LA, Peacock M. Two-year clinical trial of oral alendronate versus intravenous pamidronate in children with osteogenesis imperfecta. J Bone Miner Res. Jan 2006;21(1):132-40. [Medline].
Andiran N, Alikasifoglu A, Gonc N, Ozon A, Kandemir N, Yordam N. Cyclic pamidronate therapy in children with osteogenesis imperfecta: results of treatment and follow-up after discontinuation. J Pediatr Endocrinol Metab. Jan 2008;21(1):63-72. [Medline].
Ablin DS, Greenspan A, Reinhart M, Grix A. Differentiation of child abuse from osteogenesis imperfecta. AJR Am J Roentgenol. May 1990;154(5):1035-46. [Medline].
Kleinman PK. Differential Diagnosis II: Osteogenesis Imperfecta. Diagnostic Imaging of Child Abuse. 2nd ed. 1998: 197-213.

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Keywords

osteogenesis imperfecta, OI, collagen disease, bone disease, inborn genetic disease, Lobstein disease, Lobstein's disease, Ekman syndrome, Ekman's syndrome, osteochondrodysplasia, osteopsathyrosis, van der Hoeve syndrome, an der Hoeve's syndrome, Bruck syndrome, Bruck's syndrome, temporary brittle-bone disease, weak bones, COL1A1, COL1A2, dentinogenesis imperfecta

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Contributor Information and Disclosures

Author

Anish Kirpalani, MD, Consulting Radiologist, Texas Radiology Associates, LLP
Anish Kirpalani, MD is a member of the following medical societies: American Roentgen Ray Society, Canadian Association of Radiologists, International Society for Magnetic Resonance in Medicine, and Radiological Society of North America
Disclosure: Nothing to disclose.

Coauthor(s)

Paul S Babyn, MD, Associate Professor, Department of Medical Imaging, University of Toronto; Radiologist-in-Chief, Department of Diagnostic Imaging, The Hospital for Sick Children
Paul S Babyn, MD is a member of the following medical societies: Radiological Society of North America
Disclosure: Nothing to disclose.

Medical Editor

Harris L Cohen, MD, FACR, Vice Chairman/Associate Chairman (Research Activities), Director, Division of Body Imaging, Professor of Radiology, Stony Brook School of Medicine; Visiting Professor of Radiology, Johns Hopkins School of Medicine
Harris L Cohen, MD, FACR is a member of the following medical societies: American College of Radiology, American Institute of Ultrasound in Medicine, Association of Program Directors in Radiology, Radiological Society of North America, Society for Pediatric Radiology, and Society of Radiologists in Ultrasound
Disclosure: Nothing to disclose.

Pharmacy Editor

Bernard D Coombs, MB, ChB, PhD, Consulting Staff, Department of Specialist Rehabilitation Services, Hutt Valley District Health Board, New Zealand
Disclosure: Nothing to disclose.

Managing Editor

Marta Hernanz-Schulman, MD, FAAP, Professor, Radiology, Radiological Sciences, and Pediatrics, Director, Department of Pediatric Radiology, Radiologist-in-Chief, Director, Department of Diagnostic Imaging, Vanderbilt University Medical Center, Vanderbilt Children's Hospital
Marta Hernanz-Schulman, MD, FAAP is a member of the following medical societies: American Institute of Ultrasound in Medicine and American Roentgen Ray Society
Disclosure: Nothing to disclose.

CME Editor

Robert M Krasny, MD, Consulting Staff, Department of Radiology, The Angeles Clinic and Research Institute
Robert M Krasny, MD is a member of the following medical societies: American Roentgen Ray Society and Radiological Society of North America
Disclosure: Nothing to disclose.

Chief Editor

Felix S Chew, MD, MBA, EdM, Professor, Department of Radiology, Vice Chairman for Radiology Informatics, Section Head of Musculoskeletal Radiology, University of Washington
Felix S Chew, MD, MBA, EdM is a member of the following medical societies: American Roentgen Ray Society, Association of University Radiologists, and Radiological Society of North America
Disclosure: Nothing to disclose.

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eMedicine Specialties > Radiology > Pediatrics

Osteogenesis Imperfecta: Multimedia

Multimedia

Healing fracture of the left humeral diaphysis with callus formation in a patient with osteogenesis imperfecta (OI).

Lateral radiograph of the skull in a young female patient with type III osteogenesis imperfecta (OI) demonstrates multiple wormian bones.

Osteogenesis imperfecta (OI). Corresponding anteroposterior radiograph of the skull in the same patient as in Image 4 demonstrates multiple wormian bones.

Frontal radiograph in a patient with type III osteogenesis imperfecta (OI) with severe S-shaped scoliosis of the thoracolumbar spine.

Lateral spinal radiograph in a 1-year-old boy with osteogenesis imperfecta (OI) demonstrates multilevel, mild platyspondyly.

Sagittally reconstructed CT scan of the cervical spine in a 16-year-old female adolescent with type IV osteogenesis imperfecta (OI). Image demonstrates mild basilar invagination, with the tip of the dens above the McGregor line (red).

Midline sagittal T2-weighted MRI through the cervical spine in the same patient as in Image 9. Image demonstrates mild stenosis at the foramen magnum, caused by basilar invagination (effective width of foramen magnum denoted by red line).

More on Osteogenesis Imperfecta

References

Further Reading

Keywords

Contributor Information and Disclosures

Author

Coauthor(s)

Medical Editor

Pharmacy Editor

Managing Editor

CME Editor

Chief Editor