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Genetic causes of fractures and subdural hematomas: fact versus fiction

  • Child abuse imaging
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

Genetic disorders are in the differential diagnosis when young children present with unexplained fractures or intracranial hemorrhage. For medical and legal reasons, it is imperative to make the correct diagnosis and provide clear, evidence-based explanations of how alternative diagnoses were ruled out. A genetics consultation in cases of suspected child physical abuse should synthesize the history of present illness, medical history, family history, physical examination, and radiologic and laboratory findings in consultation with other specialists. The medical geneticist highlights how these disorders truly present. When the natural history of a genetic disorder is understood, it becomes clear that genetic disorders are not mysterious or difficult to diagnose. As highlighted in this case-based review, mainstream medical practice allows for differentiation among the intracranial and skeletal manifestations of osteogenesis imperfecta, Menkes disease, glutaric acidemia type 1 and child physical abuse. This review also highlights how a genetic disorder, Ehlers–Danlos syndrome, can be misused in a courtroom. Finally, this review summarizes when genetic testing is appropriate in cases of suspected child physical abuse.

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Acknowledgments

We acknowledge Marshall Summar, MD, Jamie Fraser, MD, Lori Frasier, MD, Debra Regier, MD, Allison Jackson, MD, Gilbert Vezina, MD, Adrianne Artis, MD, Brad T. Tinkle, MD, PhD, and the patients and families whom we all serve.

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Authors and Affiliations

  1. Rare Disease Institute, Division of Genetics and Metabolism, Children’s National Hospital, 111 Michigan Ave., NW, Washington, DC, 20010, USA

    Natasha E. Shur

  2. George Washington University School of Medicine and Health Sciences, Washington, DC, USA

    Natasha E. Shur, Maxwell L. Summerlin, Eglal Shalaby-Rana & Tanya S. Hinds

  3. Child Protection Team System, Children’s Medical Service, Florida Department of Health, Tallahassee, FL, USA

    Bruce J. McIntosh

  4. Diagnostic Imaging and Radiology, Children’s National Hospital, Washington, DC, USA

    Eglal Shalaby-Rana

  5. Child & Adolescent Protection Center, Children’s National Hospital, Washington, DC, USA

    Tanya S. Hinds

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  1. Natasha E. Shur
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  2. Maxwell L. Summerlin
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  3. Bruce J. McIntosh
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  4. Eglal Shalaby-Rana
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  5. Tanya S. Hinds
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Correspondence to Natasha E. Shur.

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Shur, N.E., Summerlin, M.L., McIntosh, B.J. et al. Genetic causes of fractures and subdural hematomas: fact versus fiction. Pediatr Radiol 51, 1029–1043 (2021). https://doi.org/10.1007/s00247-020-04865-0

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  • DOI: https://doi.org/10.1007/s00247-020-04865-0

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