Richard W. Kruse, D.O.,H. Theodore Harcke, M.D., Caitlin Minch, Milan Moore, M.D.

Alfred I. duPont Institute, Wilmington, Delaware USA

Key Points of This Exhibit

  1. The diagnosis of OI is primarily based on meticulous history and physical examination.
  2. Skin biopsy remains the most sensitive test. It may require three months for results to be available.
  3. It is possible to have OI and a normal skin biopsy.
  4. Bone densitometry (DEXA) is a useful adjunct in the rapid determination of low bone density as a risk factor for fracture.


Osteogenesis imperfecta (OI) is a rare generalized connective tissue disorder arising from defects in the structure and/or function of type I collagen. Although there is a great deal of phenotypic variability in this disorder, most patients have osseous fragility that results in frequent fractures. The milder clinical forms may be difficult to diagnose and may be confused with non-accidental injury (NAI). We present differential diagnostic points that aid the clinician. We also sought to examine the emerging role of dual-energy x-ray absorptiometry (DEXA) in the evaluation of the patient with multiple fractures. This review should not be considered as a definitive or complete differential diagnosis of frequent fractures, but is meant to present certain clinical points that may be of assistance to the clinician. A team approach with input from pediatrician, orthopaedist, geneticist, radiologist, social work, and legal services is recommended when dealing with potential non-accidental injury.

Dual-Energy X-ray Absorptiometry (DEXA)

Non-accidental Injury

Suspicious History

X-ray Fracture Patterns

Osteogenesis imperfecta

X-ray/Diagnostic Imaging
Skin Biopsy

Byers PH - personal communication 3 Aug 1994.. Studied 53 samples submitted to their laboratory for Collagen screening to evaluate OI vs NAI. 6/53 had biochemical evidence of OI. Review of the clinical features of OI on clinical exam, usually blue sclerae or osteoporosis, bone deformity, or short stature. The referring physician suspected OI in 4/6 after physical exam. Radiographic features including type of fracture were nonspecific. In the remaining 47 patients, no fractures were noted in protecfive custody.

Differential Diagnosis In OI

AGE                             DIFFERENTIAL DIAGNOSIS

Prenatal                        - Thanotophoric Dysplasia
                                - Autosomal Recessive Hypophosphatasia
                                - Achondrogenesis
                                - Campomelic Dysplasia

Newborn/Early Childhood         - Campomelic Dysplasia
                                - Non-accidental Injury
                                - Hypophosphatasia
                                - Cystinosis
                                - Leukemia
                                - Achondroplasia

Childhood/Adolescence           - Non-accidental Injury
                                - Juvenile Osteoporosis
                                - Osteoporosis
                                - Pyknodysostosis
                                - Leukemia

  1. Ablin DS, Greenspan A, Reinhart M, Grix A. Differentiation of Child abuse from osteogenesis imperfecta. Zionts I P, Nash JP, Rude R, Ross T, Staff NS. Bone mineral density in children with mild osteogenesis imperfecta. J Bone Joint Surg 1995;77B: 143-147.
  2. Davie MW, Haddaway MJ. Bone mineral content and density in healthy subjects and in osteogenesis imperfecta. Arch Dis Child 1994;70:331-334.
  3. Ablin DS, Greenspan A, Reinhart M, Grix A. Differentiation of child abuse from osteogenesis imperfecta. AJR 1990; 1 54:1035-1046.
  4. Kleinman PK, Marks SC, Blackbourne B. The metaphyseal lesion in abused infants: a radiologic-histopathologic study. AJR 1986; 1 46:895-905.
  5. Wenstrup FJ, Willing MC, Starman BJ, Byers PH. Distinct biochemical phenotypes predict clinical severity In non-lethal variants at osteogenesis imperfecta. Am J Hum Genet 1990;46:975-982.
  6. Harcke HT. imaging of the immature skeleton. In Lovell and Winter's Pediatric Orthopaedics, vol. 1, (3rd ed.), RT Morrissy, ed, Philadelphia: JB Lippincott, 1990.
  7. Taylor A. Norman ME, Konard P, Harcke HT, Whole body bone mineral density: normative values for children 2-9 years of age, J Bone Mineral Res 1994,9:S292.

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