Citation

Shur N. Am. J. Med. Genet. A 2019; 179(3): 429-434.

Affiliation

Division of Genetics, Children's National Medical Center, Washington, District of Columbia.

Copyright

(Copyright © 2019, John Wiley and Sons)

DOI

10.1002/ajmg.a.61043

PMID

30697977

Abstract

A 2-month-old healthy baby presented to the emergency room with an arm that was not moving and was found to have multiple and extensive fractures of her long bones. An extensive medical work-up was done, and the hospital's multidisciplinary child abuse team was consulted, including child protection, genetics, radiology, and general pediatrics. It was determined that the history, clinical findings, radiographic findings, and laboratory findings were consistent with child abuse. Child protection services removed the child from the home, and for the next 10 months, the infant was well, and did not sustain a single new fracture. At a civil proceeding to determine the infant's custody, an expert witness for the defense concluded that the child had hypermobile Ehlers-Danlos syndrome and low vitamin D. He stated that because of these conditions, the baby was vulnerable to fractures with routine handling. This is a personal story of a clinical geneticist who explored fracture fact versus fracture fiction and learned about the difference between responsible and irresponsible testimony. This story gives insight into how physicians can prepare to transition from the clinic to the courtroom. It is also a story about how medical experts must and should remain unbiased, evidence-based, and committed to accuracy and truth.

© 2019 Wiley Periodicals, Inc.

Language: en

Keywords

Ehlers-Danlos syndrome; child abuse; fracture; irresponsible testimony; osteogenesis imperfecta