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Osteogenesis Imperfecta Differential Diagnoses

  • Author: Manoj Ramachandran, MBBS, MRCS, FRCS; Chief Editor: Harris Gellman, MD  more...
Updated: Nov 24, 2014

Diagnostic Considerations

Because osteogenesis imperfecta (OI) can manifest itself in a wide variety of ways, differential diagnoses are best categorized into the following three stages of life:

  • Prenatal/neonatal
  • Preschool/childhood
  • Adolescence/adulthood

In addition to the conditions listed in the differential diagnosis, other conditions that should be considered in the prenatal/neonatal stage include the following:

  • Jeune dystrophy
  • Camptomelic dysplasia
  • Chondrodysplasia punctata
  • Chondroectodermal dysplasia (Ellis–van Creveld syndrome)
  • Nonaccidental injury

Hypophosphatasia may also be present. Patients may have blue sclerae, fractures, and wide fontanelles. This condition is characterized by low serum alkaline phosphatase levels and, in the severe recessive form, skin dimples overlying Bowdler spurs located symmetrically on the midshaft of the fibula, ulna, and radius.

Other conditions that should be considered in the preschool/childhood stage include the following:

  • Pyknodysostosis
  • Hajdu-Cheney syndrome
  • Osteochondromatosis
  • Nonaccidental injury

Other conditions that should be considered in the adolescence/adulthood stage include the following:

  • Maffucci syndrome

For genetic conditions, patients present with fractures. For idiopathic juvenile osteoporosis, patients aged 8-13 years present with skeletal pain, atraumatic fracture, and reduced bone density. The condition remits by early adulthood.

It is of particular importance to differentiate between OI and child abuse (though it must be kept in mind that the two can also coexist). Mild OI is most likely to be confused with child abuse.[14] The sclera and teeth are normal in many patients with OI. A family history is often not present. Keys to distinguishing OI from child abuse if no other stigmata of OI are present include the following points:

  • The type of fracture is of diagnostic significance; although any type of long bone fracture can occur in OI, certain types are rare; metaphyseal corner fractures, which are common in child abuse, are rare in OI
  • In children with OI, fractures may continue to occur while they are in protective custody; however, this scenario is hard to evaluate
  • Child abuse can also be differentiated from OI on the basis of nonskeletal manifestations (eg, retinal hemorrhage, visceral intramural hematomas, intracranial bleeds of various ages, pancreatitis, and splenic trauma)

Collagen analysis is useful in difficult cases, but a negative result does not rule out OI.

Differential Diagnoses

Contributor Information and Disclosures

Manoj Ramachandran, MBBS, MRCS, FRCS Consultant Trauma and Orthopaedic Surgeon, Barts and the London NHS Trust; Honorary Senior Lecturer, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary's, University of London, UK

Manoj Ramachandran, MBBS, MRCS, FRCS is a member of the following medical societies: British Orthopaedic Association

Disclosure: Nothing to disclose.


Pramond Achan, MBBS, FRCS Senior Registrar, Royal National Orthopaedic Hospital, UK

Disclosure: Nothing to disclose.

David H A Jones, MBChB, FRCS FRCS Ed(Orth), Consultant Orthopedic Surgeon, Great Ormond Street Hospital for Children; Senior Clinical Lecturer, University College London Hospitals, UK

David H A Jones, MBChB, FRCS is a member of the following medical societies: British Orthopaedic Association

Disclosure: Nothing to disclose.

Vinod K Panchbhavi, MD, FACS Professor of Orthopedic Surgery, Chief, Division of Foot and Ankle Surgery, Director, Foot and Ankle Fellowship Program, Department of Orthopedics, University of Texas Medical Branch School of Medicine

Vinod K Panchbhavi, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Surgeons, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Orthopaedic Trauma Association, Texas Orthopaedic Association

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Styker.

Chief Editor

Harris Gellman, MD Consulting Surgeon, Broward Hand Center; Voluntary Clinical Professor of Orthopedic Surgery and Plastic Surgery, Departments of Orthopedic Surgery and Surgery, University of Miami, Leonard M Miller School of Medicine, Clinical Professor, Surgery, Nova Southeastern School of Medicine

Harris Gellman, MD is a member of the following medical societies: American Academy of Medical Acupuncture, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Society for Surgery of the Hand, Arkansas Medical Society

Disclosure: Nothing to disclose.


Peter R Calder, MBBS, FRCS(Eng), FRCS (Tr&Orth) Consulting Surgeon, Department of Pediatric Orthopedic Surgery, The Royal National Orthopaedic Hospital, UK

Peter R Calder, MBBS, FRCS(Eng), FRCS (Tr&Orth) is a member of the following medical societies: British Medical Association

Disclosure: Nothing to disclose.

Ian D Dickey, MD, FRCSC Adjunct Professor, Department of Chemical and Biological Engineering, University of Maine; Consulting Staff, Adult Reconstruction, Orthopedic Oncology, Department of Orthopedics, Eastern Maine Medical Center

Ian D Dickey, MD, FRCSC is a member of the following medical societies: American Academy of Orthopaedic Surgeons, British Columbia Medical Association, Canadian Medical Association, and Royal College of Physicians and Surgeons of Canada

Disclosure: Stryker Orthopaedics Consulting fee Consulting; Cadence Honoraria Speaking and teaching

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

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Acute fractures are observed in radius and ulna. Multiple fractures can be seen in ribs. Old healing humeral fracture with callus formation is observed.
Beaded ribs. Multiple fractures are seen in long bones of upper extremities.
Wormian bones are present in skull.
Newborn has bilateral femoral fractures.
Table 1. Adapted Sillence Classification of Osteogenesis Imperfecta
Type Genetic Teeth Bone Fragility Bone Deformity Sclera Spine Skull Prognosis
IA AD* Normal Variable but less severe than other types Moderate Blue 20% scoliosis and kyphosis Wormian bones Fair
IB AD Dentinogenesis imperfecta NA NA NA NA NA NA
II AD Unknown Very severe Multiple fractures Blue NA Wormian bones with absence of ossification Perinatal death
III AD Dentinogenesis imperfecta Severe Progressive bowing of long bones and spine Bluish at birth but white in adults Kyphoscoliosis Hypoplastic wormian bones Wheelchair-bound, not ambulatory
IVA AD Normal Moderate Moderate White Kyphoscoliosis Hypoplastic wormian bones Fair
IVB AD Dentinogenesis imperfecta NA NA NA NA NA NA
* AD = autosomal dominant; NA = not applicable.
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