Interpreting Osteogenesis Imperfecta Variants of Uncertain Significance in the Context of Physical Abuse: A Case Series

Jennifer Canter; Vinod B. Rao; Vincent J. Palusci; David Kronn; Michal Manaster; Robin Altman

doi:10.1055/s-0038-1672135

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2019; 08(02): 063-068
DOI: 10.1055/s-0038-1672135

Case Report

Georg Thieme Verlag KG Stuttgart · New York

Interpreting Osteogenesis Imperfecta Variants of Uncertain Significance in the Context of Physical Abuse: A Case Series

Jennifer Canter

¹Department of Pediatrics, New York Medical College, Valhalla, New York, United States

²Department of Pediatrics, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, New York, United States

,

Vinod B. Rao

¹Department of Pediatrics, New York Medical College, Valhalla, New York, United States

²Department of Pediatrics, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, New York, United States

,

Vincent J. Palusci

³Department of Pediatrics, New York University School of Medicine, New York, New York, United States

,

David Kronn

¹Department of Pediatrics, New York Medical College, Valhalla, New York, United States

²Department of Pediatrics, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, New York, United States

,

Michal Manaster

¹Department of Pediatrics, New York Medical College, Valhalla, New York, United States

²Department of Pediatrics, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, New York, United States

,

Robin Altman

¹Department of Pediatrics, New York Medical College, Valhalla, New York, United States

²Department of Pediatrics, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, New York, United States

› Author Affiliations

Abstract

Unexplained childhood fracture(s) warrant consideration of physical abuse and osteogenesis imperfecta (OI). Genetic OI testing may identify “variants of unknown significance (VUS).” Interpretation of VUS in context of potential abuse may have protective, criminal, and medical impacts. This case series explores practices regarding clinicians' interpretation of VUS during child abuse evaluations. Variability was noted regarding factors considered for interpreting clinical significance. Based on these cases, recommendations for careful and thorough evaluation are detailed, including proposed use of a limited follow-up skeletal survey in 3 months, as a consideration to assess healing of prior fractures and to look for any additional injuries.

Keywords

variant of unknown significance - osteogenesis imperfect - child physical abuse

Full Text

References

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